Aliases & Classifications for Hyperphenylalaninemia

MalaCards integrated aliases for Hyperphenylalaninemia:

Name: Hyperphenylalaninemia 74 54 39
Hyperphenylalaninaemia 71

External Ids:

UMLS 71 C0751435

Summaries for Hyperphenylalaninemia

MalaCards based summary : Hyperphenylalaninemia, also known as hyperphenylalaninaemia, is related to hyperphenylalaninemia, bh4-deficient, a and hyperphenylalaninemia, bh4-deficient, b. An important gene associated with Hyperphenylalaninemia is PTS (6-Pyruvoyltetrahydropterin Synthase), and among its related pathways/superpathways are Metabolism and Neuroscience. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations... more...

Related Diseases for Hyperphenylalaninemia

Diseases related to Hyperphenylalaninemia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 110, show less)
# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, a 34.1 SPR QDPR PTS PCBD1 PAH GCH1
2 hyperphenylalaninemia, bh4-deficient, b 34.1 TH QDPR PTS GCH1
3 mild hyperphenylalaninemia 33.6 QDPR PTS PCBD1 PAH DNAJC12
4 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 32.7 SPR QDPR PCBD1 GCH1
5 segawa syndrome, autosomal recessive 32.4 TH GCH1
6 dystonia, dopa-responsive 32.0 TH SPR GCH1
7 phenylketonuria 31.6 TPH1 TH QDPR PTS PCBD1 PAH
8 classic phenylketonuria 31.2 QDPR PTS PAH
9 tetrahydrobiopterin deficiency 31.1 TH SPR SOD1 QDPR PTS PCBD1
10 tyrosinemia 31.0 QDPR PTS PAH
11 early-onset parkinson's disease 29.8 TH GCH1 CAT
12 maple syrup urine disease 29.6 SOD1 QDPR PAH CAT
13 dystonia 29.1 TPH1 TH SPR QDPR PTS PCBD1
14 cerebral palsy 28.8 SOD1 NOS1 CNP CAT BGLAP
15 hyperphenylalaninemia, bh4-deficient, d 12.8
16 hyperphenylalaninemia, bh4-deficient, c 12.7
17 hyperphenylalaninemia, mild, non-bh4-deficient 12.7
18 maternal hyperphenylalaninemia 12.6
19 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 12.2
20 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 12.0
21 tyrosine-oxidase temporary deficiency 11.2
22 inherited metabolic disorder 10.5
23 microcephaly 10.4
24 alacrima, achalasia, and mental retardation syndrome 10.4
25 autosomal recessive disease 10.4
26 hypotonia 10.3
27 oculogyric crisis 10.3 SPR GCH1
28 hemidystonia 10.3 SPR GCH1
29 multifocal dystonia 10.3 SPR GCH1
30 polycystic bone disease 10.2
31 homocystinuria 10.2
32 isolated optic neuritis 10.2 MBP CNP
33 galactosemia i 10.1
34 hypothyroidism 10.1
35 aminoacidopathies 10.1
36 encephalopathy 10.1
37 hypertonia 10.1
38 hereditary dystonia 10.1 TH GCH1
39 pyridoxamine 5-prime-phosphate oxidase deficiency 10.1 SPR QDPR
40 intestinal disaccharidase deficiency 10.1 PTS CAT
41 cervical dystonia 10.0 TH SPR GCH1
42 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0 TH MBP
43 neonatal hypoxic and ischemic brain injury 10.0 TH MBP
44 hair whorl 10.0
45 triiodothyronine receptor auxiliary protein 10.0
46 hemochromatosis, type 1 10.0
47 histidinemia 10.0
48 methylmalonyl-coa epimerase deficiency 10.0
49 tyrosinemia, type i 10.0
50 maturity-onset diabetes of the young, type 3 10.0
51 dermatitis, atopic 10.0
52 abdominal obesity-metabolic syndrome 1 10.0
53 maturity-onset diabetes of the young 10.0
54 body mass index quantitative trait locus 1 10.0
55 leukemia, acute lymphoblastic 10.0
56 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.0
57 congenital hypothyroidism 10.0
58 lennox-gastaut syndrome 10.0
59 vitamin b12 deficiency 10.0
60 bone resorption disease 10.0
61 rickets 10.0
62 keratomalacia 10.0
63 visual epilepsy 10.0
64 bronchopneumonia 10.0
65 congenital toxoplasmosis 10.0
66 keratosis 10.0
67 sensory peripheral neuropathy 10.0
68 fibrosarcoma of bone 10.0
69 histiocytosis 10.0
70 systemic scleroderma 10.0
71 mitochondrial metabolism disease 10.0
72 placenta disease 10.0
73 fatty liver disease 10.0
74 toxoplasmosis 10.0
75 heritable pulmonary arterial hypertension 10.0
76 mitochondrial disorders 10.0
77 chromosomal triplication 10.0
78 virus associated hemophagocytic syndrome 10.0
79 autonomic dysfunction 10.0
80 cerebral atrophy 10.0
81 infantile hypotonia 10.0
82 myoclonus 10.0
83 seizure disorder 10.0
84 spasticity 10.0
85 hemophagocytic syndrome associated with an infection 10.0
86 permanent congenital hypothyroidism 10.0
87 disorder of phenylalanine metabolism 10.0
88 endogenous depression 9.9 TPH1 TH NOS1
89 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9 QDPR PCBD1 PAH GCH1 CAT
90 meningitis and encephalitis 9.9 SOD1 CAT
91 personality disorder 9.9 TPH1 TH CACNA1C
92 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 9.8 TPH1 TH
93 congenital methemoglobinemia 9.8 SOD1 G6PD
94 meningococcal infection 9.8 SOD1 G6PD
95 striatonigral degeneration 9.8 TH MBP CNP
96 mood disorder 9.7 TPH1 TH NOS1 CACNA1C
97 renovascular hypertension 9.7 SOD1 NOS1 CAT
98 paroxysmal dystonia 9.6 TH NOS1
99 psychotic disorder 9.6 TPH1 TH PAH NOS1 CACNA1C
100 senile cataract 9.6 SOD1 G6PD CAT
101 multinodular goiter 9.6 SOD1 G6PD CAT
102 progressive bulbar palsy 9.6 SOD1 NEFH
103 vascular dementia 9.5 SOD1 MBP CAT
104 bipolar disorder 9.4 TPH1 TH PAH NOS1 CACNA1C
105 toxic encephalopathy 9.4 TH SOD1 CAT
106 peripheral nervous system disease 9.1 SOD1 NEFH MBP CAT
107 constipation 9.1 TPH1 TH SOD1 NOS1 CAT
108 autism 8.6 TPH1 TH SOD1 PAH MBP CACNA1C
109 schizophrenia 8.3 TPH1 TH SOD1 PAH NOS1 MBP
110 parkinson disease, late-onset 8.1 TPH1 TH SPR SOD1 QDPR PAH

Graphical network of the top 20 diseases related to Hyperphenylalaninemia:



Diseases related to Hyperphenylalaninemia

Symptoms & Phenotypes for Hyperphenylalaninemia

GenomeRNAi Phenotypes related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

26 (showing 28, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.98 PRKG2
2 Decreased viability GR00221-A-2 9.98 SOD1
3 Decreased viability GR00221-A-3 9.98 PRKG2 SOD1
4 Decreased viability GR00221-A-4 9.98 PRKG2 SOD1
5 Decreased viability GR00249-S 9.98 CACNA1C CNP G6PD NOS1 PCBD1 SOD1
6 Decreased viability GR00301-A 9.98 CNP
7 Decreased viability GR00381-A-1 9.98 GCH1 SPR
8 Decreased viability GR00386-A-1 9.98 CNP G6PD
9 Decreased viability GR00402-S-2 9.98 G6PD MBP NEFH
10 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.6 DNAJC12
11 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.6 DNAJC12
12 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.6 SPR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.6 SPR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.6 DNAJC12
15 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.6 DNAJC12
16 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.6 SPR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.6 DNAJC12
18 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.6 PRKG2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.6 DNAJC12
20 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.6 DNAJC12
21 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.6 SPR
22 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.6 PRKG2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.6 DNAJC12
24 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.6 SPR
25 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.6 PRKG2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.6 DNAJC12
27 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.6 PRKG2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.6 GCH1

MGI Mouse Phenotypes related to Hyperphenylalaninemia:

45 (showing 6, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 CACNA1C CNP MBP NEFH NOS1 PAH
2 cellular MP:0005384 10.1 BGLAP CACNA1C CAT CNP G6PD MBP
3 homeostasis/metabolism MP:0005376 10.09 BGLAP CACNA1C CAT CNP G6PD GCH1
4 endocrine/exocrine gland MP:0005379 9.91 BGLAP CACNA1C CNP NOS1 PTS SOD1
5 nervous system MP:0003631 9.73 CACNA1C CNP G6PD GCH1 MBP NEFH
6 reproductive system MP:0005389 9.28 BGLAP CACNA1C CNP MBP NOS1 PAH

Drugs & Therapeutics for Hyperphenylalaninemia

Drugs for Hyperphenylalaninemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 22, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
3
Phenylalanine Approved, Investigational, Nutraceutical Phase 4 63-91-2 6140
4 Pharmaceutical Solutions Phase 4
5
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
6 Anti-Infective Agents Phase 1
7 Anti-Bacterial Agents Phase 1
8 Norgestimate, ethinyl estradiol drug combination Phase 1
9
Verapamil Approved 52-53-9 2520
10
Tyrosine Approved, Investigational, Nutraceutical 60-18-4 6057
11 Hormones
12 Anti-Arrhythmia Agents
13 Vasodilator Agents
14 Calcium, Dietary
15 calcium channel blockers
16 Fluorodeoxyglucose F18
17 Antioxidants
18 Vitamins
19 Trace Elements
20 Nutrients
21 Micronutrients
22
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(showing 28, show less)
# Name Status NCT ID Phase Drugs
1 ENDURE: A Phase IV, Prospective, Open-label, Uncontrolled, Multi-centre Cohort Trial to Assess the Responsiveness of Subjects With Phenylketonuria (PKU) to Treatment With Kuvan® 20 mg/kg/Day for 28 Days Completed NCT01082328 Phase 4 Kuvan®
2 The Effectiveness of High-Dose Synthetic BH4 (Saproterin Dihydrochloride or "Kuvan") in Amish PKU Patients Recruiting NCT02677870 Phase 4 saproterin dihydrochloride
3 A Phase 3, Open-Label, Randomized, Multi-Center Study to Assess the Safety & Tolerability of an Induction, Titration, and Maintenance Dose Regimen of BMN 165 Self Administered by Adults With PKU Not Previously Treated With BMN 165 Completed NCT01819727 Phase 3 BMN 165
4 Double-Blind, Placebo Controlled, Multicentre Study With an Open Label Extension to Evaluate the Efficacy and Safety of Tetrahydrobiopterin (BH4) in Children and Adolescents With Hyperphenylalaninemia Caused by Phenylalanine Hydroxylase Deficiency Terminated NCT00432822 Phase 2, Phase 3 tetrahydrobiopterin (BH4)
5 Phase 2, Multicenter, Open Label Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to Primary BH4 Deficiency Completed NCT00355264 Phase 2 Phenoptin
6 A Phase 1/2, Open-Label, Randomized Parallel Arm, Intra-patient Dose Escalation Study to Evaluate Safety, PK and Preliminary Efficacy of CNSA-001 in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia Recruiting NCT03519711 Phase 1, Phase 2 CNSA-001
7 A Phase 1/2 Open-Label, Randomized, Concurrently-Controlled, Dose Escalation Study to Evaluate the Safety and Efficacy of HMI-102 in Adult PKU Subjects With PAH Deficiency Recruiting NCT03952156 Phase 1, Phase 2
8 Response to Phenylketonuria to Tetrahydrobiopterin (BH4) Unknown status NCT00244218 Phase 1 tetrahydrobiopterin (BH4)
9 A Phase 1, Randomized, Placebo- and Active-controlled Crossover Study to Evaluate the Effects of Sapropterin Dihydrochloride Oral Administration on QTc Intervals in Healthy Adult Subjects Completed NCT00789568 Phase 1 sapropterin dihydrochloride;Moxifloxacin
10 Sapropterin Expanded Access Program Approved for marketing NCT00484991 Sapropterin dihydrochloride
11 Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia Completed NCT03167697
12 Nutrition Status of Adult and Adolescent Patients With Classical Phenylketonuria (PKU) and Hyperphenylalaninemia Completed NCT01879995
13 An Observational Study Research to Collect the Effectiveness and Safety Data of KUVAN® Retrospectively in Chinese Subjects With Hyperphenylalaninemia (HPA) Caused by Tetrahydrobiopterin (BH4) Deficiency Completed NCT03864029 KUVAN
14 Bone Mineral Density in Adults With Hyperphenylalaninemia Completed NCT01209819
15 Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia Completed NCT01869972
16 Neuropsychological and Quality of Life Outcomes in Untreated Adults With Mild Hyperphenylalaninemia (MHP)/Phenylketonuria (PKU) With Phenylalanine Levels Between 360 and 600 µmol/L Caused by Phenylalanine Hydroxylase (PAH) Deficiency. Completed NCT01924026
17 Effects of Maternal Phenylketonuria (PKU) on Pregnancy Outcome Completed NCT00065299
18 A Pilot Study of FDG PET Findings in Patients With Phenylketonuria Before and After BH4 Supplementation Completed NCT00986973 Sapropterin
19 Hyperphenylalaninemia in Cerebral Malaria Completed NCT00338520
20 Antioxidant Signature in Adult Patients With Phenylketonuria (PKU) and Healthy Volunteers : Relationship With Metabolic Disturbances Completed NCT02212288
21 An Open-label, Explorative, Post Launch, Multicenter, Multi-country Intervention Study of PKU Synergy (an Amino-acid Mixture) to Evaluate Change in Nutrient Intake in PKU Subjects With an Increased Phe-tolerance/Intake Recruiting NCT03777826
22 An Observational Study to Evaluate Metabolic Control and Dietary Management in Women With PKU Taking PKU Sphere During Pre-conception and/or Pregnancy Recruiting NCT04224142
23 Kuvan® Adult Maternal Pediatric European Registry Active, not recruiting NCT01016392
24 PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry Active, not recruiting NCT00778206 Kuvan
25 Study of a National Cohort of Adult Patients With Phenylketonuria Active, not recruiting NCT01619722
26 Evaluating the Compliance, Acceptability, Safety and Tolerance of a Lower Calorie Protein Substitute for the Dietary Management of Phenylketonuria in Children and Adults - a Pilot Study Not yet recruiting NCT04272736
27 Early Dietary Treated Patients With Phenylketonuria Can Achieve Normal Growth and Mental Development. Not yet recruiting NCT04302194
28 Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy Terminated NCT01541397 Sapropterin

Search NIH Clinical Center for Hyperphenylalaninemia

Genetic Tests for Hyperphenylalaninemia

Anatomical Context for Hyperphenylalaninemia

MalaCards organs/tissues related to Hyperphenylalaninemia:

40
Brain, Testes, Bone, Liver, Cortex, Heart, Cerebellum

Publications for Hyperphenylalaninemia

Articles related to Hyperphenylalaninemia:

(showing 1210, show less)
# Title Authors PMID Year
1
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics. 54 61
19946181 2010
2
Sapropterin: a new therapeutic agent for phenylketonuria. 54 61
19654333 2009
3
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy. 54 61
19292873 2009
4
[The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency]. 54 61
19534905 2009
5
[Biopterin and child neurologic disease]. 54 61
19172809 2009
6
Diagnosis of tetrahydrobiopterin (BH4) responsive mild phenylketonuria in Japan over the past 10 years. 54 61
19904458 2008
7
Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations. 61 54
19062537 2008
8
Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia. 61 54
18321666 2008
9
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants. 54 61
18346471 2008
10
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. 61 54
18276179 2008
11
[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China]. 54 61
19099731 2008
12
[Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency]. 54 61
18505119 2008
13
Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein. 54 61
18241680 2008
14
Phenylketonuria: an inborn error of phenylalanine metabolism. 61 54
18566668 2008
15
Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias. 54 61
18210214 2008
16
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 54 61
17935162 2008
17
A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels. 61 54
17590551 2008
18
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene. 61 54
18299955 2008
19
Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria. 54 61
17968763 2007
20
Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia. 54 61
17680344 2007
21
Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. 54 61
17517248 2007
22
[Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients]. 54 61
17557244 2007
23
[Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation]. 54 61
17407085 2007
24
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations. 61 54
17096675 2007
25
[Dopa-responsive dystonia]. 61 54
17432176 2006
26
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. 61 54
16917893 2006
27
6-pyruvoyltetrahydropterin synthase deficiency two-case report. 61 54
16850690 2006
28
[Tetrahydrobiopterin therapy for hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. When and how?]. 54 61
16527067 2006
29
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency. 54 61
16364672 2006
30
[Dopa-responsive dystonia: clinical, genetic, and biochemical studies]. 54 61
16541791 2006
31
Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients. 54 61
16198137 2005
32
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. 54 61
16275037 2005
33
Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. 54 61
16242984 2005
34
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. 54 61
15984017 2005
35
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia. 61 54
15556637 2004
36
Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. 54 61
15464430 2004
37
Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. 54 61
14681498 2004
38
Dihydropteridine reductase deficiency in man: from biology to treatment. 61 54
14705166 2004
39
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation. 61 54
14722928 2004
40
Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation. 54 61
15159646 2004
41
The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria. 54 61
14728991 2004
42
The molecular basis of phenylketonuria in Koreans. 54 61
15503242 2004
43
Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria. 61 54
15346830 2004
44
Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria. 61 54
14654665 2003
45
Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice. 54 61
14601136 2003
46
Tetrahydrobiopterin is synthesized from 6-pyruvoyl-tetrahydropterin by the human aldo-keto reductase AKR1 family members. 61 54
12893295 2003
47
Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. 61 54
12734191 2003
48
How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression. 61 54
12655545 2003
49
Hyperphenylalaninemia reduces creatine kinase activity in the cerebral cortex of rats. 54 61
12615087 2003
50
Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania. 54 61
12640344 2003
51
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art. 61 54
12618080 2003
52
Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. 54 61
12409276 2002
53
Hyperphenylalaninemia and birth weight. 61 54
12381438 2002
54
Disorders of tetrahydrobiopterin metabolism and their treatment. 61 54
12003346 2002
55
Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency. 61 54
11855937 2002
56
Phenylketonuria and glycogen storage disease type III in sibs of one family. 54 61
11859869 2002
57
PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis. 61 54
11708866 2001
58
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. 61 54
11592814 2001
59
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics. 54 61
11461196 2001
60
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. 61 54
11486900 2001
61
Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine. 61 54
11326337 2001
62
Molecular analysis of phenylketonuria (PKU) in newborns from Texas. 54 61
11385716 2001
63
A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia. 61 54
11284432 2001
64
Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients. 54 61
11096279 2001
65
Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 61 54
11438997 2001
66
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). 54 61
11153907 2000
67
Effects of long-chain polyunsaturated fatty acid supplementation on fatty acid status and visual function in treated children with hyperphenylalaninemia. 54 61
11035829 2000
68
Mutation analysis anticipates dietary requirements in phenylketonuria. 54 61
11043162 2000
69
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria. 61 54
10980574 2000
70
Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies. 61 54
10924272 2000
71
[Screening for 6-pyruvoyl-tetrahydrobiopterin synthase (PTPS) deficiency: clinical analysis of 9 patients with PTPS deficiency]. 61 54
11798810 2000
72
Tetrahydrobiopterin biosynthesis, regeneration and functions. 61 54
10727395 2000
73
Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype. 54 61
10720436 2000
74
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. 54 61
10874306 2000
75
Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia. 54 61
10585341 1999
76
The structural basis of phenylketonuria. 61 54
10527663 1999
77
Human phenylalanine hydroxylase gene expression in kidney and other nonhepatic tissues. 54 61
10444341 1999
78
[Progressive convulsive encephalopathy: considering a abnormality of biopterin metabolism]. 54 61
10429818 1999
79
Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes. 54 61
10356315 1999
80
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading. 61 54
10384371 1999
81
Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin. 54 61
10321973 1999
82
[Mutations causing hereditary hyperphenylalaninemia]. 61 54
10910639 1999
83
Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia. 61 54
9921872 1999
84
Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia. 54 61
10495930 1999
85
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. 54 61
10220141 1999
86
Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene. 61 54
9894812 1998
87
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. 54 61
9760199 1998
88
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. 61 54
9634518 1998
89
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 61 54
9667588 1998
90
Retrovirus-mediated double transduction of the GTPCH and PTPS genes allows 6-pyruvoyltetrahydropterin synthase-deficient human fibroblasts to synthesize and release tetrahydrobiopterin. 54 61
9648848 1998
91
Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). 61 54
9585615 1998
92
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal. 54 61
9598724 1998
93
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 61 54
9450907 1998
94
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 54 61
9744478 1998
95
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function. 61 54
9450897 1998
96
Amino acid metabolism in pediatric patients. 54 61
9437700 1998
97
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH). 54 61
9792411 1998
98
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. 54 61
9399896 1997
99
Molecular basis of mild hyperphenylalaninaemia in Poland. 54 61
9429153 1997
100
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients. 54 61
9341885 1997
101
Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study. 54 61
9380432 1997
102
Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia. 54 61
9219069 1997
103
Electromyographic alterations in hyperphenylalaninemia due to dihydropteridine reductase deficiency. 54 61
9075022 1997
104
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. 54 61
9222755 1997
105
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. 61 54
9222757 1997
106
The PAH mutation analysis consortium database: update 1996. 54 61
9016524 1997
107
Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase. 54 61
8841415 1996
108
Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients. 61 54
8864759 1996
109
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study. 61 54
8659548 1996
110
Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population. 54 61
8632937 1996
111
Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling. 61 54
8929956 1996
112
The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium. 61 54
8827369 1996
113
Tetrahydrobiopterin and inherited hyperphenylalaninemias. 61 54
8819618 1996
114
In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings. 61 54
8892014 1996
115
Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity. 54 61
7493990 1995
116
In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations. 54 61
7556322 1995
117
Whatever happened to PKU? 61 54
7628072 1995
118
Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia. 61 54
7766959 1994
119
Mutations in the phenylalanine hydroxylase gene: methods for their characterization. 54 61
7766950 1994
120
A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. 61 54
7698774 1994
121
Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients. 54 61
7959699 1994
122
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. 54 61
8178819 1994
123
Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias. 61 54
7707686 1994
124
Origins of hyperphenylalaninemia in Israel. 61 54
7913865 1994
125
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe. 54 61
8268925 1993
126
Mouse models of human phenylketonuria. 61 54
8375656 1993
127
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes. 54 61
8222274 1993
128
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. 54 61
8433887 1993
129
Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene. 54 61
8081944 1993
130
Molecular basis for nonphenylketonuria hyperphenylalaninemia. 54 61
1358789 1992
131
[The metabolic basis of the hyperphenylalaninemias and tyrosinemia]. 54 61
1357201 1992
132
Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre. 61 54
1588014 1992
133
Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin. 54 61
1405480 1992
134
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12. 54 61
1301200 1992
135
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus. 61 54
1301201 1992
136
Cranial CT and MRI in malignant phenylketonuria. 54 61
1508595 1992
137
A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs. 61 54
1301942 1992
138
Tetrahydrobiopterin loading test in hyperphenylalaninemia. 54 61
1754298 1991
139
Phenylketonuria: screening, treatment and maternal PKU. 61 54
1959225 1991
140
The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations. 54 61
1679029 1991
141
Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families. 54 61
1674714 1991
142
Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. 61 54
2027491 1991
143
A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia. 54 61
2044609 1991
144
DNA haplotype analyses of patients with hyperphenylalaninemia. 61 54
2220810 1990
145
Brain CT and MR findings in hyperphenylalaninemia due to dihydropteridine reductase deficiency (variant of phenylketonuria). 54 61
2398144 1990
146
Two mutations within the coding sequence of the phenylalanine hydroxylase gene. 54 61
1975559 1990
147
The control of 5-hydroxytryptamine and dopamine synthesis in the brain: a theoretical approach. 54 61
2109147 1990
148
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia. 61
32333439 2020
149
Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background. 61
32409273 2020
150
Anthropometry and bone mineral density in treated and untreated hyperphenylalaninemia. 61
32520722 2020
151
Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia. 61
32519510 2020
152
AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria. 61
31970201 2020
153
Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing. 61
32304307 2020
154
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. 61
32456656 2020
155
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. 61
32022462 2020
156
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802. 61
32217972 2020
157
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802. 61
32217978 2020
158
Caring for a Child with Phenylketonuria: Parental Experiences from a Eurasian Country. 61
31688717 2020
159
HPLC-Based Analysis of Impurities in Sapropterin Branded and Generic Tablets. 61
32260076 2020
160
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics. 61
31883647 2020
161
Examining the blood amino acid status in pretherapeutic patients with  hyperphenylalaninemia. 61
31762087 2020
162
A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition. 61
31991569 2020
163
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene. 61
31332730 2019
164
Creatine nanoliposome reverts the HPA-induced damage in complex II-III activity of the rats' cerebral cortex. 61
31410688 2019
165
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study. 61
31623983 2019
166
Phenylalanine Monitoring via Aptamer-Field-Effect Transistor Sensors. 61
31631652 2019
167
Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China. 61
31445982 2019
168
[Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province]. 61
31703126 2019
169
Low increase in phenylalanine tolerance during pregnancies in PKU woman with high prepregnancy BMI and postconceptional initiation of diet: A case report. 61
31807725 2019
170
The Comparison of Iodine-Type and MnO2-Type Oxidation for Measuring the Levels of Urine Neopterin and Biopterin in Patients with Hyperphenylalaninemia: A Descriptive-Analytic Study in Iran. 61
31686730 2019
171
Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis. 61
31484352 2019
172
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects. 61
30926181 2019
173
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants. 61
30747360 2019
174
GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child - a case report. 61
31202265 2019
175
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. 61
31241292 2019
176
Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase. 61
31208052 2019
177
The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra. 61
31355225 2019
178
Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid. 61
30926434 2019
179
Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil. 61
30829006 2019
180
Over Restriction of Dietary Protein Allowance: The Importance of Ongoing Reassessment of Natural Protein Tolerance in Phenylketonuria. 61
31052331 2019
181
Phenylketonuria: Current Treatments and Future Developments. 61
30864096 2019
182
Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency. 61
30853107 2019
183
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals. 61
30887117 2019
184
Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in Pakistan. 61
31000854 2019
185
Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12. 61
30667134 2019
186
Transient phenylketonuria in premature infants. 61
30504004 2019
187
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria. 61
29997390 2019
188
Identification of an inherited pathogenic DNAJC12 variant in a patient with hyperphenylalalinemia. 61
30179615 2019
189
Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia. 61
30443829 2019
190
Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China. 61
30221392 2019
191
High-throughput polymer tip-electrospray ionization mass spectrometry for enhanced detection of neopterin and biopterin in clinical urine samples. 61
30597687 2019
192
A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit. 61
31998365 2019
193
Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments. 61
31551819 2019
194
Newly validated biomarkers of brain damage may shed light into the role of oxidative stress in the pathophysiology of neurocognitive impairment in dietary restricted phenylketonuria patients. 61
30333522 2019
195
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population. 61
31737040 2019
196
Phenylketonuria Diet Promotes Shifts in Firmicutes Populations. 61
31058098 2019
197
DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis. 61
30139987 2018
198
Assessment of antioxidant enzymes, total sialic acid, lipid bound sialic acid, vitamins and selected amino acids in children with phenylketonuria. 61
30135593 2018
199
Simulations of the regulatory ACT domain of human phenylalanine hydroxylase (PAH) unveil its mechanism of phenylalanine binding. 61
30287685 2018
200
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China. 61
30459323 2018
201
A bone mineralization defect in the Pahenu2 model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation. 61
30201326 2018
202
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population. 61
30159852 2018
203
PLASMA PHENYLALANINE DETERMINATION BY QUANTITATIVE DENSITOMETRY OF THIN LAYER CHROMATOGRAMS AND BY HIGH PERFORMANCE LIQUID CHROMATOGRAPHY IN RELATION WITH MODERN MANAGEMENT OF PHENYLKETONURIA. 61
31149312 2018
204
The influence of blood phenylalanine levels on neurocognitive function in adult PKU patients. 61
29948654 2018
205
Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age. 61
30268140 2018
206
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria. 61
30037505 2018
207
Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients. 61
30001213 2018
208
Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico. 61
29685341 2018
209
Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China. 61
30050108 2018
210
Brain bioenergetics in rats with acute hyperphenylalaninemia. 61
29454001 2018
211
Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice. 61
29520738 2018
212
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. 61
29499199 2018
213
Carbohydrate status in patients with phenylketonuria. 61
29945661 2018
214
[Research progress on phenotype and genotype of hyperphenylalaninemia]. 61
30226320 2018
215
Phenylketonuric diet negatively impacts on butyrate production. 61
29502926 2018
216
50 Years Ago in The Journal of Pediatrics: Variability in the Manifestations of Phenylketonuria/Transient Hyperphenylalaninemia. 61
29576183 2018
217
Psychological wellbeing in parents of children with phenylketonuria and association with treatment adherence. 61
29651832 2018
218
Blood phenylalanine instability strongly correlates with anxiety in phenylketonuria. 61
29326880 2018
219
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia. 61
28801146 2018
220
Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12. 61
29380259 2018
221
Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma. 61
29317692 2018
222
Cognitive and behavioral impairment in mild hyperphenylalaninemia. 61
31365197 2018
223
DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias. 61
29174366 2018
224
Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years. 61
30323604 2018
225
The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with Phenylketonuria. 61
28940169 2018
226
[Tetrahydrobiopterin (BH4) deficiency - diagnosis and treatment]. 61
29172658 2017
227
"Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening. 61
29102225 2017
228
Growth and Final Height Among Children With Phenylketonuria. 61
29089407 2017
229
DNAJC12 and dopa-responsive nonprogressive parkinsonism. 61
28892570 2017
230
Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia. 61
29032371 2017
231
Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase. 61
28653649 2017
232
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand. 61
28915855 2017
233
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. 61
28794131 2017
234
New protein structures provide an updated understanding of phenylketonuria. 61
28645531 2017
235
DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia. 61
28389235 2017
236
Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels. 61
28504493 2017
237
[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up]. 61
29039163 2017
238
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children. 61
28492150 2017
239
Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism. 61
28468253 2017
240
COMPARISON OF PLASMA PHENYLALANINE DETERMINATION BY DENSITOMETRY OF THIN-LAYER CHROMATOGRAMS AND BY HIGH PERFORMANCE LIQUID CHROMATOGRAPHY IN RELATION WITH THE SCREENING OF PHENYLKETONURIA. 61
31149174 2017
241
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial. 61
28274234 2017
242
Development of a new UPLC-ESI-MS/MS method for the determination of biopterin and neopterin in dried blood spot. 61
28109742 2017
243
Demethylation of the promoter region of GPX3 in a newborn with classical phenylketonuria. 61
27742442 2017
244
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. 61
28132689 2017
245
Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride. 61
27898272 2017
246
Dynamics of hyperphenylalaninemia and intellectual outcome in teenagers with phenylketonuria. 61
28850634 2017
247
Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria. 61
28850618 2017
248
Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria. 61
28293905 2017
249
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients. 61
27246466 2017
250
Supplementation of Micronutrient Selenium in Metabolic Diseases: Its Role as an Antioxidant. 61
29441149 2017
251
Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007-2015). 61
29184644 2017
252
Intestinal microbiota as a tetrahydrobiopterin exogenous source in hph-1 mice. 61
28079055 2017
253
Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark. 61
26542770 2016
254
Lipid profile status and other related factors in patients with Hyperphenylalaninaemia. 61
27612877 2016
255
DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria. 61
26822703 2016
256
Nutritional status of patients with phenylketonuria in Japan. 61
27595068 2016
257
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder. 61
27106218 2016
258
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. 61
27121329 2016
259
Genetic background of hyperphenylalaninemia in Nagasaki, Japan. 61
27173423 2016
260
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios. 61
26910740 2016
261
[High plasma folate in patients with phenylketonuria]. 61
27137821 2016
262
Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice. 61
26440798 2016
263
Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts. 61
26215833 2016
264
Determination of Phenylalanine and Tyrosine by High Performance Liquid Chromatography-Tandem Mass Spectrometry. 61
26602133 2016
265
A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population. 61
26481238 2016
266
Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age. 61
26683466 2016
267
Successful Linkage Analysis in Classical Phenylketonuria Families Followed by Direct Sequencing and Mutation Detection. 61
27156318 2016
268
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. 61
26666653 2015
269
Cognitive functioning in mild hyperphenylalaninemia. 61
28649547 2015
270
Intellectual and Developmental Status in Children With Hyperphenylalaninemia and PKU Who Were Screened in a National Program. 61
26635939 2015
271
Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency? 61
26226119 2015
272
Nifedipine attenuation of abdominal aortic aneurysm in hypertensive and non-hypertensive mice: Mechanisms and implications. 61
26254182 2015
273
Micronutrient in hyperphenylalaninemia. 61
26322328 2015
274
Vitamin and mineral status in patients with hyperphenylalaninemia. 61
26123187 2015
275
Hyperoxia depletes (6R)-5,6,7,8-tetrahydrobiopterin levels in the neonatal retina: implications for nitric oxide synthase function in retinopathy. 61
25913075 2015
276
Committee opinion no: 636: Management of women with phenylketonuria. 61
26000544 2015
277
New insights in growth of phenylketonuric patients. 61
25367055 2015
278
[What should the paediatrician know about hyperphenylalaninaemia?]. 61
26363863 2015
279
Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four. 61
26701937 2015
280
Prevalence of neonatal hyperphenylalaninemia in yazd province, iran. 61
25999633 2015
281
Short prolactin profile for monitoring treatment in BH4 deficiency. 61
25707872 2015
282
Computational study of missense mutations in phenylalanine hydroxylase. 61
25750018 2015
283
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling. 61
25726095 2015
284
[Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian]. 61
25863076 2015
285
Executive functioning of 4 children with hyperphenylalaninemia from childhood to adolescence. 61
25825540 2015
286
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. 61
25418970 2015
287
Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran. 61
28649530 2015
288
Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry. 61
24797655 2015
289
Hyperphenylalaninemia and the genomic revolution. 61
25549965 2015
290
A requirement for Gch1 and tetrahydrobiopterin in embryonic development. 61
25557619 2015
291
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride. 61
25497838 2015
292
[Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing]. 61
25636092 2015
293
Plasma cholesterol in adults with phenylketonuria. 61
25551302 2015
294
Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria. 61
26413448 2015
295
HPLC for confirmatory diagnosis and biochemical monitoring of Cuban patients with hyperphenylalaninemias. 61
25725765 2015
296
The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin. 61
25822821 2015
297
Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations. 61
26006720 2015
298
Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring--implications for clinical management of patients with hyperphenylalaninemia. 61
25261586 2015
299
Circulating tetrahydrobiopterin as a novel biomarker for abdominal aortic aneurysm. 61
25260610 2014
300
Infantile hypertrophic pyloric stenosis (IHPS): a study of its pathophysiology utilizing the newborn hph-1 mouse model of the disease. 61
25359537 2014
301
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing. 61
25456745 2014
302
Recessive mutations in PCBD1 cause a new type of early-onset diabetes. 61
24848070 2014
303
Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU). 61
24487571 2014
304
Glutathione metabolism enzymes in brain and liver of hyperphenylalaninemic rats and the effect of lipoic acid treatment. 61
24488205 2014
305
A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver. 61
25226162 2014
306
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency. 61
25124972 2014
307
Co-administration of creatine plus pyruvate prevents the effects of phenylalanine administration to female rats during pregnancy and lactation on enzymes activity of energy metabolism in cerebral cortex and hippocampus of the offspring. 61
24916961 2014
308
Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients. 61
24120886 2014
309
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations. 61
24992243 2014
310
Preconception healthcare delivery at a population level: construction of public health models of preconception care. 61
24234279 2014
311
Molecular genetics and diagnosis of phenylketonuria: state of the art. 61
24882081 2014
312
Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia. 61
25237320 2014
313
Changes of lipoproteins in phenylalanine hydroxylase-deficient children during the first year of life. 61
24607329 2014
314
Altered brain protein expression profiles are associated with molecular neurological dysfunction in the PKU mouse model. 61
24548049 2014
315
Cost-benefit analysis of hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency: for consideration of expanded newborn screening in Hong Kong. 61
24803483 2014
316
[Reinforcement of the diagnosis and treatment of hyperphenylalaninemia and prognostic study]. 61
25190156 2014
317
[Interpretation of the consensus about the diagnosis and treatment of hyperphenylalaninemia]. 61
25190162 2014
318
[Consensus about the diagnosis and treatment of hyperphenylalaninemia]. 61
25190160 2014
319
Synthesis of a phenylalanine imprinted polymer for attenuation of phenylalanine absorption via the gut in a murine hyperphenylalaninemia model. 61
32261498 2014
320
Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association? 61
24773629 2014
321
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. 61
23942198 2014
322
Progressive neuropsychiatric manifestations of phenylketonuria in adulthood. 61
24726436 2014
323
[What disorders suspect following an increase of phenylalanine on newborn screening?]. 61
24736139 2014
324
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. 61
24204001 2014
325
Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation. 61
23660475 2014
326
Evaluation of effectiveness and outcome of PKU screening and management in the State of Sergipe, Brazil. 61
24728166 2014
327
Mutation analysis in mild hyperphenylalaninemia (HPA) patients - whom and what to screen? 61
24246852 2014
328
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees. 61
24296287 2014
329
[Open, non-comparative phase III clinical study to evaluate the efficacy and safety of sapropterin in patients with phenylketonuria and hyperphenylalaninemia]. 61
25563006 2014
330
Randomized controlled trial of a protein substitute with prolonged release on the protein status of children with phenylketonuria. 61
24724767 2014
331
The complexity of newborn screening follow-up in phenylketonuria. 61
25155776 2014
332
Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency. 61
25667865 2014
333
Mutation analysis in hyperphenylalaninemia patients from South Italy. 61
23792259 2013
334
Antioxidant treatment strategies for hyperphenylalaninemia. 61
23657560 2013
335
DNA damage induced by phenylalanine and its analogue p-chlorophenylalanine in blood and brain of rats subjected to a model of hyperphenylalaninemia. 61
24032682 2013
336
The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran. 61
24497712 2013
337
[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province]. 61
24078561 2013
338
Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias. 61
23705856 2013
339
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. 61
23138986 2013
340
Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience. 61
23771645 2013
341
[Electroencephalogram evaluation of hyperphenylalaninemia patients on dietetic treatments]. 61
24169333 2013
342
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. 61
23690520 2013
343
[Maternal phenylketonuria]. 61
23628728 2013
344
Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy. 61
23537842 2013
345
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 61
23500595 2013
346
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations. 61
23357515 2013
347
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. 61
23436109 2013
348
Role of catalase and superoxide dismutase activities on oxidative stress in the brain of a phenylketonuria animal model and the effect of lipoic acid. 61
23232760 2013
349
The regulation of vascular tetrahydrobiopterin bioavailability. 61
23634439 2013
350
Impaired behavioural pain responses in hph-1 mice with inherited deficiency in GTP cyclohydrolase 1 in models of inflammatory pain. 61
23421753 2013
351
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report. 61
23430801 2013
352
A novel PCBD gene mutation in an Iranian patient with hyperphenylalaninemia. 61
24133926 2013
353
Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia. 61
24376837 2013
354
Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked? 61
24051226 2013
355
Structural features of the regulatory ACT domain of phenylalanine hydroxylase. 61
24244510 2013
356
Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation. 61
22669364 2012
357
In vivo catecholaminergic metabolism in the medial prefrontal cortex of ENU2 mice: an investigation of the cortical dopamine deficit in phenylketonuria. 61
22447154 2012
358
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. 61
22729819 2012
359
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model. 61
22644647 2012
360
Phenylpyruvic acid decreases glucose-6-phosphate dehydrogenase activity in rat brain. 61
22477023 2012
361
Commentary: What degree of hyperphenylalaninaemia requires treatment? 61
22718276 2012
362
Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency. 61
22473768 2012
363
Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. 61
22607939 2012
364
Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: an eight-year experience. 61
22465081 2012
365
Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs. 61
23692723 2012
366
The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening. 61
22330942 2012
367
Reversal of metabolic and neurological symptoms of phenylketonuric mice treated with a PAH containing helper-dependent adenoviral vector. 61
22348550 2012
368
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. 61
22205310 2012
369
Role of uncoupled endothelial nitric oxide synthase in abdominal aortic aneurysm formation: treatment with folic acid. 61
22083158 2012
370
Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years. 61
23430859 2012
371
Recovery of neurogenic amines in phenylketonuria mice after liver-targeted gene therapy. 61
22107842 2012
372
Metabolic profile of amniotic fluid as a biochemical tool to screen for inborn errors of metabolism and fetal anomalies. 61
21837404 2012
373
Regular exercise prevents oxidative stress in the brain of hyperphenylalaninemic rats. 61
21947687 2011
374
Physical development in patients with phenylketonuria on dietary treatment: a retrospective study. 61
21878401 2011
375
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme. 61
22000754 2011
376
[Metabolopathies. The importance of a good performance nurse]. 61
25546903 2011
377
Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan. 61
21880449 2011
378
Non-PKU mild hyperphenylalaninemia (MHP)--the dilemma. 61
21632269 2011
379
Tetrahydrobiopterin: biochemistry and pathophysiology. 61
21867484 2011
380
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China. 61
21933604 2011
381
Phenylalanine hydroxylase deficiency. 61
21555948 2011
382
Mild hyperphenylalaninemia: to treat or not to treat. 61
21347590 2011
383
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. 61
21416196 2011
384
The screening of inborn errors of metabolism in sick Chinese infants by tandem mass spectrometry and gas chromatography/mass spectrometry. 61
21463612 2011
385
Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency. 61
21660367 2011
386
Neurocognitive function in mild hyperphenylalaninemia. 61
21418193 2011
387
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan. 61
21307867 2011
388
Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong. 61
21542954 2011
389
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. 61
21336059 2011
390
Complete restoration of phenylalanine oxidation in phenylketonuria mouse by a self-complementary adeno-associated virus vector. 61
21322099 2011
391
Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation. 61
20823030 2011
392
Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter. 61
20842687 2011
393
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. 61
21103935 2011
394
Routine use of CANTAB system for detection of neuropsychological deficits in patients with PKU. 61
21035369 2011
395
Correspondence on ''experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation''. 61
21285043 2011
396
The G46S-hPAH mutant protein: a model to study the rescue of aggregation-prone PKU mutations by chaperones. 61
21871828 2011
397
Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients. 61
21871829 2011
398
Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency. 61
22014474 2011
399
Outcomes of phenylketonuria with relevance to follow-up. 61
23430828 2011
400
Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. 61
21937252 2011
401
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. 61
20818608 2011
402
[Use of computerized neuropsychological tests and of nuclear magnetic resonance spectroscopy in clinical assessment of adult patients with phenylketonuria]. 61
21812225 2011
403
The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles. 61
21890392 2011
404
Therapeutic liver repopulation for phenylketonuria. 61
20495959 2010
405
Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase. 61
21152388 2010
406
Elevated phenylalanine on newborn screening: follow-up testing may reveal undiagnosed galactosaemia. 61
20947531 2010
407
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. 61
20567911 2010
408
Phenylketonuria. 61
20971365 2010
409
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency. 61
20458544 2010
410
Challenges and pitfalls in the management of phenylketonuria. 61
20624808 2010
411
Sapropterin dihydrochloride: a new drug and a new concept in the management of phenylketonuria. 61
20830319 2010
412
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria. 61
20418136 2010
413
Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency. 61
30780801 2010
414
Potential therapeutic applications of tetrahydrobiopterin: from inherited hyperphenylalaninemia to mitochondrial diseases. 61
20649554 2010
415
Incidence of neonatal hyperphenylalaninemia in fars province, South iran. 61
23056707 2010
416
Lipoic acid prevents oxidative stress in vitro and in vivo by an acute hyperphenylalaninemia chemically-induced in rat brain. 61
20226470 2010
417
Relative bioavailability of sapropterin from intact and dissolved sapropterin dihydrochloride tablets and the effects of food: a randomized, open-label, crossover study in healthy adults. 61
20206791 2010
418
Advanced research on dopamine signaling to develop drugs for the treatment of mental disorders: regulation of dopaminergic neural transmission by tyrosine hydroxylase protein at nerve terminals. 61
20716859 2010
419
Variations in genotype-phenotype correlations in phenylketonuria patients. 61
20082265 2010
420
Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. 61
19786003 2010
421
ACOG Committee Opinion No. 449: Maternal phenylketonuria. 61
20134300 2009
422
Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency. 61
19830588 2009
423
5-Hydroxytryptophan rescues serotonin response to stress in prefrontal cortex of hyperphenylalaninaemic mice. 61
19664307 2009
424
Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test. 61
19609714 2009
425
Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control. 61
19513811 2009
426
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. 61
19394257 2009
427
[Diagnostic value of the determination of hyperphenylalaninemia in the newborn]. 61
19718821 2009
428
Expression analysis of the aldo-keto reductases involved in the novel biosynthetic pathway of tetrahydrobiopterin in human and mouse tissues. 61
19273550 2009
429
Disorders of biopterin metabolism. 61
19234759 2009
430
Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia. 61
19277893 2009
431
Altered brain gene expression profiles associated with the pathogenesis of phenylketonuria in a mouse model. 61
19073163 2009
432
Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria. 61
19016342 2009
433
[Quantification of phenylalanine in the brain of patients with hyperphenylalaninemia by (1)H magnetic resonance spectroscopy]. 61
19573458 2009
434
Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients. 61
18937047 2009
435
[Did the change of technique of screening investigations influence on improvement of test credibility in recognizing and differentiating diagnostics of hiperphenylalaninemias?]. 61
19485249 2009
436
Spotlight on sapropterin in primary hyperphenylalaninemia. 61
19627172 2009
437
Sapropterin: a review of its use in the treatment of primary hyperphenylalaninaemia. 61
19323589 2009
438
[The maternal phenylketonuria syndrom--still current problem]. 61
19485248 2009
439
Carcinogenic effects in a phenylketonuria mouse model. 61
19172175 2009
440
Quality of diagnostic mutation analyses for phenylketonuria. 61
19015950 2008
441
Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening. 61
19904469 2008
442
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. 61
18932221 2008
443
Protective effect of recombinant adeno-associated virus 2/8-mediated gene therapy from the maternal hyperphenylalaninemia in offsprings of a mouse model of phenylketonuria. 61
18955797 2008
444
Phenylalanine and tyrosine kinetics in compensated liver cirrhosis: effects of meal ingestion. 61
18653725 2008
445
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]. 61
19080473 2008
446
Use of acute hyperphenylalaninemia in rhesus monkeys to examine sensitivity and stability of the L-[1-11C]leucine method for measurement of regional rates of cerebral protein synthesis with PET. 61
18431402 2008
447
Reduced availability of brain amines during critical phases of postnatal development in a genetic mouse model of cognitive delay. 61
18502400 2008
448
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population. 61
18294361 2008
449
[Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico]. 61
18516367 2008
450
Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria. 61
18493213 2008
451
Finding the fertile woman with phenylketonuria. 61
18262326 2008
452
Metabolism of tetrahydrobiopterin: its relevance in monoaminergic neurons and neurological disorders. 61
19107867 2008
453
Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment. 61
18036498 2007
454
Treating phenylketonuria: a single centre experience. 61
18034987 2007
455
The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment. 61
17603758 2007
456
The PAH gene, phenylketonuria, and a paradigm shift. 61
17443661 2007
457
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism. 61
17467347 2007
458
Management of phenylketonuria and hyperphenylalaninemia. 61
17513425 2007
459
Metabolic basis of sexual dimorphism in PKU mice after genome-targeted PAH gene therapy. 61
17406346 2007
460
[Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs]. 61
17708870 2007
461
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). 61
17323144 2007
462
Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population. 61
17188538 2007
463
[Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients]. 61
17160954 2006
464
Maternal hyperphenylalaninemia syndrome: neuropsychological evaluation of four subjects during childhood and adolescence. 61
17093378 2006
465
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency. 61
17091341 2006
466
LAT1 gene variants--potential factors influencing the clinical course of phenylketonuria. 61
16972176 2006
467
Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria. 61
16925533 2006
468
CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene. 61
16917891 2006
469
Effect of metals and phenylalanine on the activity of human tryptophan hydroxylase-2: comparison with that on tyrosine hydroxylase activity. 61
16581181 2006
470
[Study on tetrahydrobiopterin deficiency in Northern Chinese population]. 61
16767663 2006
471
Elevated plasma phenylalanine in severe malaria and implications for pathophysiology of neurological complications. 61
16714564 2006
472
Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency? 61
16423549 2006
473
Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer. 61
16319947 2006
474
Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria. 61
16319949 2006
475
[Bone mineral turnover and bone densitometry in patients with dietary risk: hyperphenylalaninemia and galactosemia]. 61
16527101 2006
476
Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency. 61
16161143 2006
477
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency. 61
16601866 2006
478
[Magnetic resonance imaging of the brain in phenylketonuria]. 61
16447793 2006
479
Quantitative bacterial micro-assay for rapid detection of serum phenylalanine on dry blood-spots: application in phenylketonuria screening. 61
16375590 2006
480
A quantitative bacterial micro-assay for rapid detection of serum phenylalanine in dry blood-spots: application in phenylketonuria screening. 61
16424613 2006
481
Mitochondrial damage induced by fetal hyperphenylalaninemia in the rat brain and liver: its prevention by melatonin, Vitamin E, and Vitamin C. 61
16309833 2006
482
Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. 61
16051511 2005
483
Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience. 61
16091307 2005
484
Decreased phenylalanine uptake and turnover in patients with vitiligo. 61
16143555 2005
485
Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder? 61
16182582 2005
486
Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now? 61
16165390 2005
487
Impaired glutamatergic synaptic transmission in the PKU brain. 61
16153867 2005
488
Plasma biopterin levels and tetrahydrobiopterin responsiveness. 61
16183315 2005
489
Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities. 61
16135092 2005
490
[Bone mineral turnover and bone densitometry in patients with a high-risk diet: hyperphenylalaninemia and galactosemia]. 61
16219275 2005
491
Low therapeutic threshold for hepatocyte replacement in murine phenylketonuria. 61
16043102 2005
492
[Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients]. 61
16086286 2005
493
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. 61
15991863 2005
494
[Management of phenylketonuria and hyperphenylalaninemia: the French guidelines]. 61
15885553 2005
495
[Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test]. 61
15924746 2005
496
Effects of an immune-enhancing diet in endotoxemic rats. 61
15723756 2005
497
In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 61
15319459 2004
498
Phenylalanine hydroxylase deficiency: intelligence of patients after early dietary treatment. 61
15868846 2004
499
[Pathogenetic mechanisms in phenylketonuria: disorders affecting the metabolism of neurotransmitters and the antioxidant system]. 61
15573314 2004
500
Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice. 61
15057263 2004
501
Congenic mapping and genotyping of the tetrahydrobiopterin-deficient hph-1 mouse. 61
15234340 2004
502
[Study on mutations of exon 12 of the PAH gene in 127 phenylketonuria patients]. 61
15192831 2004
503
Plasma phenylalanine concentrations are associated with hepatic iron content in a murine model for phenylketonuria. 61
15110326 2004
504
Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report. 61
15133828 2004
505
Translating knowledge into practice in the "post-genome" era. 61
15124827 2004
506
State-of-the-art 2003 on PKU gene therapy. 61
14728985 2004
507
Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment. 61
15633889 2004
508
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration. 61
14728990 2004
509
Pregnancy experiences in the woman with mild hyperphenylalaninemia. 61
14654663 2003
510
The Maternal Phenylketonuria Project: a summary of progress and challenges for the future. 61
14654670 2003
511
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. 61
14654659 2003
512
Cognitive and behavioral development in maternal phenylketonuria offspring. 61
14654662 2003
513
Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria. 61
14654666 2003
514
The Maternal Phenylketonuria International Study: 1984-2002. 61
14654658 2003
515
Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study. 61
14654657 2003
516
[Phenylketonuria diagnosed during the neonatal period and breast feeding]. 61
14743689 2003
517
Genetic engineering of Escherichia coli for production of tetrahydrobiopterin. 61
14642352 2003
518
A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency. 61
12692712 2003
519
The molecular basis of phenylketonuria in Lithuania. 61
12655550 2003
520
Autism and phenylketonuria. 61
12757360 2003
521
Phenylketonuria mutations in Europe. 61
12655544 2003
522
PAHdb 2003: what a locus-specific knowledgebase can do. 61
12655543 2003
523
BH4-sensitive hyperphenylalaninemia: new case and review of literature. 61
12770680 2003
524
Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene. 61
12659094 2003
525
A neonatal screening in Lebanon: Results of five years' experience. 61
17146215 2003
526
Hyperphenylalaninemia in the Philippines. 61
15906731 2003
527
Long term follow-up of patients with inborn errors of metabolism detected by the newborn screening program in Japan. 61
15906687 2003
528
Lipophilic antioxidants in patients with phenylketonuria. 61
12499340 2003
529
A survey for the incidence of phenylketonuria in Guangdong, China. 61
15906732 2003
530
Tandem mass spectrometric analysis for disorders in amino, organic and fatty acid metabolism: two year experience in South Korea. 61
15906713 2003
531
Newborn screening--is it really that simple? 61
15906711 2003
532
6-pyruvoyl tetrahydropterin synthase deficiency: a case report. 61
15906733 2003
533
Dietary threonine reduces plasma phenylalanine levels in patients with hyperphenylalaninemia. 61
12499992 2003
534
Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia. 61
12971421 2003
535
The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. 61
12891649 2003
536
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. 61
12468276 2002
537
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. 61
12501224 2002
538
Deficits in brain serotonin synthesis in a genetic mouse model of phenylketonuria. 61
12499868 2002
539
[The progressive study on gene therapy for hyperphenylalaninemia rats]. 61
12674642 2002
540
Radiation accidents in the Southern Urals (1949-1967) and human genome damage. 61
12443929 2002
541
Hepatocyte nuclear factor 1 alpha controls renal expression of the Npt1-Npt4 anionic transporter locus. 61
12367519 2002
542
Follow up of fetal outcome in cases of maternal phenylketonuria in Northern Ireland. 61
12193524 2002
543
Alanine prevents the reduction of pyruvate kinase activity in brain cortex of rats subjected to chemically induced hyperphenylalaninemia. 61
12396106 2002
544
The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited. 61
12173030 2002
545
Elevated plasma phenylalanine concentrations may adversely affect bone status of phenylketonuric mice. 61
12408184 2002
546
Oxidative stress induced by phenylketonuria in the rat: Prevention by melatonin, vitamin E, and vitamin C. 61
12210848 2002
547
Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients. 61
12227464 2002
548
Nutrient intake and congenital heart defects in maternal phenylketonuria. 61
12193940 2002
549
The impact of phenylketonuria on folate metabolism. 61
12208135 2002
550
Hyperphenylalaninemia and impaired glucose tolerance in mice lacking the bifunctional DCoH gene. 61
12011081 2002
551
[Anthropologic study of women with hyperphenylalaninemia]. 61
12373923 2002
552
Study on a novel strategy to treatment of phenylketonuria. 61
12227645 2002
553
Validation of the phenylalanine/tyrosine ratio determined by tandem mass spectrometry: sensitive newborn screening for phenylketonuria. 61
12241016 2002
554
Growth parameters in newborns with hyperphenylalaninaemia. 61
12123441 2002
555
Cranial MR spectroscopy of tetrahydrobiopterin deficiency. 61
12063241 2002
556
Inhibition of the mitochondrial respiratory chain by phenylalanine in rat cerebral cortex. 61
12064349 2002
557
[Sexual life of women with hyperphenylalaninemia]. 61
12078555 2002
558
Experimental hyperphenylalaninemia provokes oxidative stress in rat brain. 61
11997085 2002
559
Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria. 61
11814455 2002
560
[Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients]. 61
11937441 2002
561
Mental illness in mild PKU responds to biopterin. 61
11914042 2002
562
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. 61
11940335 2002
563
Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency. 61
12200907 2002
564
Skin genetically engineered as a bioreactor or a 'metabolic sink'. 61
12426486 2002
565
Neonatal screening and long-term follow-up of phenylketonuria: the French database. 61
11641035 2001
566
Associations between phenylalanine-to-tyrosine ratios and performance on tests of neuropsychological function in adolescents treated early and continuously for phenylketonuria. 61
11768137 2001
567
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. 61
11673361 2001
568
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. 61
11694255 2001
569
Treatable neurotransmitter deficiency in mild phenylketonuria. 61
11552030 2001
570
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. 61
11443547 2001
571
A pilot study of neonatal screening by electrospray ionization tandem mass spectrometry in Taiwan. 61
11550411 2001
572
Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia. 61
11461190 2001
573
Dimerization co-factor of hepatocyte nuclear factor 1/pterin-4alpha-carbinolamine dehydratase is necessary for pigmentation in Xenopus and overexpressed in primary human melanoma lesions. 61
11395380 2001
574
Glycerol increases the yield and activity of human phenylalanine hydroxylase mutant enzymes produced in a prokaryotic expression system. 61
11386853 2001
575
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. 61
11388593 2001
576
Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study. 61
11328945 2001
577
Newborn PKU screening in Turkey: at present and organization for future. 61
11432505 2001
578
Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia. 61
11264437 2001
579
A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria. 61
11405341 2001
580
[Studies on neonatal screening, clinical and gene analysis for tetrahydrobiopterin deficiency in Southern Chinese]. 61
11295124 2001
581
In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation. 61
11161839 2001
582
American Academy of Pediatrics: Maternal phenylketonuria. 61
11158484 2001
583
Biochemical effects of supplemented long-chain polyunsaturated fatty acids in hyperphenylalaninemia. 61
11237478 2001
584
Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience. 61
11678552 2001
585
Retrospective neuropsychological evaluation of 18 Romanian subjects with hyperphenylalaninaemia. 61
11195248 2000
586
Hepatocyte nuclear factor 1, a transcription factor at the crossroads of glucose homeostasis. 61
11065346 2000
587
Adult care in phenylketonuria and hyperphenylalaninaemia: the relevance of neurological abnormalities. 61
11043157 2000
588
Neuropsychological approaches to treatment policy issues in phenylketonuria. 61
11043151 2000
589
Studies on the genotype-phenotype relation in the hph-1 mouse mutant deficient in guanosine triphosphate (GTP) cyclohydrolase I activity. 61
10984661 2000
590
Molecular basis of mild hyperphenylalaninaemia in Turkey. 61
10947211 2000
591
Effect of phenylalanine and p-chlorophenylalanine on Na+, K+-ATPase activity in the synaptic plasma membrane from the cerebral cortex of rats. 61
11092577 2000
592
[A new strategy of gene therapy for hyperphenylalaninemia rats]. 61
11798804 2000
593
Measurement of phenyllactate, phenylacetate, and phenylpyruvate by negative ion chemical ionization-gas chromatography/mass spectrometry in brain of mouse genetic models of phenylketonuria and non-phenylketonuria hyperphenylalaninemia. 61
10790306 2000
594
[Pseudo-inherited form of left heart obstructive defects revealing maternal phenylketonuria]. 61
10858866 2000
595
"Hypotyrosinemia" in phenylketonuria. 61
10870846 2000
596
Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia. 61
10685924 2000
597
Neuropsychological function in mild hyperphenylalaninemia. 61
10755172 2000
598
A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia. 61
10767173 2000
599
The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year study. 61
10694332 2000
600
Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study. 61
10683054 2000
601
[Importance of the diagnoses and treatment of phenylketonuria]. 61
10769367 2000
602
[Serum tyrosine in children with phenylketonuria and mild hyperphenylalaninemia]. 61
11013857 2000
603
[Phenylketonuria: a children's disease in adulthood]. 61
10665298 2000
604
Phenylalanine Hydroxylase Deficiency 61
20301677 2000
605
Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China. 61
11142755 2000
606
PAHdb: a locus-specific knowledgebase. 61
10612829 2000
607
Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. 61
10679941 2000
608
[Hyperphenylalaninemia]. 61
11031976 2000
609
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia. 61
10626578 1999
610
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. 61
10593560 1999
611
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation. 61
10598814 1999
612
[Children of foreign origin adopted in France. Analysis of 68 cases during l2 years at the University Hospital Center of Tours]. 61
10544779 1999
613
Repeated adverse fetal outcome in pregnancy complicated by uncontrolled maternal phenylketonuria. 61
10571768 1999
614
Oral administration of a glutamine-enriched diet before or after endotoxin challenge in aged rats has limited effects. 61
10498750 1999
615
Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation. 61
10987649 1999
616
Hyperphenylalaninaemia in children with falciparum malaria. 61
10627868 1999
617
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 61
10484807 1999
618
The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency. 54
10479481 1999
619
Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study. 61
10429004 1999
620
Monogenic traits are not simple: lessons from phenylketonuria. 61
10390625 1999
621
Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates. 61
10404727 1999
622
Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case finding. 61
10203668 1999
623
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions. 61
10234516 1999
624
Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia. 61
10770663 1999
625
Presentation, diagnosis, and treatment of the disorders of monoamine neurotransmitter metabolism. 61
10331470 1999
626
A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. 61
10051643 1999
627
Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. 54
9950308 1999
628
Persistent tyrosinemia detected by thin-layer chromatography. 61
11400756 1999
629
A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online. 61
10408783 1999
630
Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study. 61
10693064 1999
631
Identification of Mutations Causing 6-Pyruvoyl- Tetrahydrobiopterin Synthase Deficiency in Polish Patients With Variant Hyperphenylalaninemia. 61
10089284 1998
632
[Maternal PKU syndrome as an obstetric problem: literature review and own clinical experience]. 61
10224766 1998
633
Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours. 61
9836704 1998
634
Molecular characterization of phenylketonuria in Japanese patients. 61
9860305 1998
635
[Transient neonatal tyrosinemia: a frequent abnormality] 61
14685586 1998
636
[Program for the early detection of hyperphenylalaninemia: 11 years on]. 61
12891390 1998
637
Antioxidant status in hyperphenylalaninemia. 61
9760015 1998
638
Human white blood cells and hair follicles are good sources of mRNA for the pterin carbinolamine dehydratase/dimerization cofactor of HNF1 for mutation detection. 61
9675155 1998
639
Aberrant phenylalanine metabolism in phenylketonuria heterozygotes. 61
9700593 1998
640
Metabolic engineering as therapy for inborn errors of metabolism--development of mice with phenylalanine hydroxylase expression in muscle. 61
9797873 1998
641
Mild hyperphenylalaninemia and heterozygosity of the phenylalanine hydroxylase gene. 61
9562969 1998
642
Multivariate discrimination for phenylketonuria (PKU) and non-PKU hyperphenylalaninemia after analysis of newborns' dried blood-spot specimens for six amino acids by ion-exchange chromatography. 61
9474031 1998
643
In vivo evidence for compromised phenylalanine metabolism in vitiligo. 61
9480820 1998
644
Neuropsychological outcome of experimental manipulation of phenylalanine intake in treated phenylketonuria. 61
9501267 1998
645
Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia. 61
9852673 1998
646
Dietary treatment of destructive behavior associated with hyperphenylalaninemia. 61
9579281 1998
647
Development of the phenylketonuria screening programme in Estonia. 61
9575455 1998
648
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience. 61
9781015 1998
649
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. 61
9521426 1998
650
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases. 61
9399840 1998
651
[An experimental study on the effects of maternal hyperphenylalaninemia on the central nervous system and behavior of offspring rats]. 61
9542220 1998
652
Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population. 61
9452062 1998
653
Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German Collaborative Study on Phenylketonuria. 61
9284280 1997
654
Transitory hyperphenylalaninaemia in children with continuously treated phenylketonuria. 61
9241405 1997
655
Some morphological changes in the rat thyroid gland during experimental hyperphenylalaninemia. 61
9185991 1997
656
[Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria]. 61
9264877 1997
657
A candidate mouse model for Hartnup disorder deficient in neutral amino acid transport. 61
9060408 1997
658
Effect of experimental hyperphenylalaninemia on the postnatal rat brain. 61
9099613 1997
659
Effect of hyperphenylalaninemia chemically induced on in vitro incorporation of 32P into cytoskeletal proteins from cerebral cortex of developing rats. 61
9056382 1997
660
Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3. 61
9298832 1997
661
Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations. 61
9101291 1997
662
Newborn phenylketonuria (PKU) Guthrie (BIA) screening and early hospital discharge. 61
9118832 1997
663
Maternal hyperphenylalaninaemia as a cause of microcephaly and mental retardation. 61
8863876 1996
664
Intellectual and school performance in adolescents with phenylketonuria according to their dietary compliance. The Czech-Slovak Collaborative Study. 61
8828611 1996
665
Longitudinal study on early diagnosis and treatment of phenylketonuria in Poland. 61
8828610 1996
666
Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis. 61
8807319 1996
667
Austrian report on longitudinal outcome in phenylketonuria. 61
8828608 1996
668
The North American Maternal Phenylketonuria Collaborative Study, developmental assessment of the offspring: preliminary report. 61
8828638 1996
669
German Maternal Phenylketonuria Study. 61
8828639 1996
670
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt. 61
8682503 1996
671
The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency. 61
8828600 1996
672
Maternal non-phenylketonuric mild hyperphenylalaninemia. 61
8828603 1996
673
Untreated non-phenylketonuric-hyperphenylalaninaemia: intellectual and neurological outcome. 61
8828604 1996
674
Sustained attention in untreated non-PKU-hyperphenylalaninemia. 61
8877619 1996
675
[Pregnancy and the child of a mother with phenylketonuria]. 61
8763723 1996
676
No fine motor deficits in patients with untreated non-phenylketonuria hyperphenylalaninaemia. 61
8695989 1996
677
Microcephaly in a hyperphenylalaninemic infant leading to the diagnosis of maternal hyperphenylalaninemia. 61
8929743 1996
678
[Maternal hyperphenylalaninemia in a population of healty Czech women. 18 years' experience with mass screening, diet therapy and metabolic monitoring]. 61
8616880 1996
679
[Malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency]. 61
8796003 1996
680
Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes. 61
8946176 1996
681
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis. 61
27082169 1996
682
Newborn screening for certain treatable inborn errors of metabolism in Alexandria. 61
17214193 1996
683
International database of tetrahydrobiopterin deficiencies. 61
8830181 1996
684
PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus. 61
8594560 1996
685
Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity. 61
8739972 1996
686
Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach. 61
8533759 1995
687
Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia. 61
8618906 1995
688
Activity of the bifunctional protein 4a-hydroxy-tetrahydropterin dehydratase/DCoH during human fetal development: correlation with dihydropteridine reductase activity and tetrahydrobiopterin levels. 61
8554621 1995
689
Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects. 61
8592329 1995
690
ATP diphosphohydrolase activity in synaptosomes from cerebral cortex of rats subjected to chemically induced phenylketonuria. 61
8547846 1995
691
Three-dimensional structure of the bifunctional protein PCD/DCoH, a cytoplasmic enzyme interacting with transcription factor HNF1. 61
7744010 1995
692
Outcome in offspring of women with mild hyperphenylalaninaemia. 61
7845132 1995
693
Crystallization and preliminary crystallographic studies of recombinant dimerization cofactor of transcription factor HNF1/pterin-4 alpha-carbinolamine dehydratase from liver. 61
8001680 1995
694
Radiological assessment of the hand and wrist in phenylketonuria and hyperphenylalaninaemia. 61
7567262 1995
695
Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia. 61
7749420 1995
696
Transient neonatal hyperphenylalaninaemia is not related to mutations at the phenylalanine hydroxylase gene. 61
7474914 1995
697
Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse. 61
7542713 1995
698
Loss of neurotransmitter receptors by hyperphenylalaninemia in the HPH-5 mouse brain. 61
7766946 1994
699
The PKU mouse project: its history, potential and implications. 61
7766947 1994
700
Treatment of phenylalanine hydroxylase deficiency. 61
7766961 1994
701
Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome. 61
7983992 1994
702
Automated sequencing detects all mutations in Northern Irish patients with phenylketonuria and mild hyperphenylalaninaemia. 61
7766952 1994
703
A new amino acid mixture permits new approaches to the treatment of phenylketonuria. 61
7766965 1994
704
Science, medicine and phenylketonuria. 61
7766944 1994
705
No white matter abnormalities in untreated patients with persistent hyperphenylalaninaemia: findings in magnetic resonance imaging. German PKU Collaborative Study. 61
7859796 1994
706
Phenylalanine kinetics in sick preterm neonates with respiratory distress syndrome. 61
7898979 1994
707
Effect of phenylalanine and its metabolites on ATP diphosphohydrolase activity in synaptosomes from rat cerebral cortex. 61
7824071 1994
708
Maternal mild hyperphenylalaninemia: results of treated and untreated pregnancies in two sisters. 61
8071761 1994
709
Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. 61
8088845 1994
710
Effect of high-protein meal plus aspartame ingestion on plasma phenylalanine concentrations in obligate heterozygotes for phenylketonuria. 61
8159095 1994
711
Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis. 61
7981714 1994
712
Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes. 61
7967476 1994
713
Deficient cumulative learning: an animal model of retarded cognitive development. 61
8183192 1994
714
Brain magnetic resonance imaging in children with optimally controlled hyperphenylalaninaemia. 61
7837764 1994
715
Retarded development of neurons and oligodendroglia in rat forebrain produced by hyperphenylalaninemia results in permanent deficits in myelin despite long recovery periods. 61
7507064 1993
716
White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings. 61
8131802 1993
717
Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis. 61
8131811 1993
718
Congenital heart disease in adolescents and adults. Teratology, genetics, and recurrence risks. 61
8252559 1993
719
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. 61
8352282 1993
720
Brain MRI changes in phenylketonuria. Associations with dietary status. 61
8353710 1993
721
Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test. 61
8404969 1993
722
A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia. 61
8364546 1993
723
Feedback regulation mechanisms for the control of GTP cyclohydrolase I activity. 61
8502995 1993
724
[Maternal hyperphenylalaninemia]. 61
8348644 1993
725
[The pediatrician and early detection of hyperphenylalaninemia. Study Group on Hyperphenylalaninemia)]. 61
8503599 1993
726
Hyperphenylalaninaemia and outcome in intravenously fed preterm neonates. 61
8323359 1993
727
Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote. 61
8487271 1993
728
Proton in vivo spectroscopy of patients with hyperphenylalaninaemia. 61
8327063 1993
729
Genetic background of clinical homogeneity of phenylketonuria in Poland. 54
8097262 1993
730
Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients. 61
8444221 1993
731
A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria. 54
8095248 1993
732
[Phenylketonuria and hyperphenylalaninemia]. 61
8449159 1993
733
Elevated phenylalanine concentrations in benign hyperphenylalaninemia from evaporated milk feedings. 61
8432076 1993
734
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia. 61
7508163 1993
735
Tetrahydrobiopterin biosynthesis defects examined in cytokine-stimulated fibroblasts. 61
8127073 1993
736
[Embryofetopathy of the newborn infant of a phenylketonuric mother. A diagnosis not to be missed]. 61
8463567 1993
737
Controlled diet in phenylketonuria may cause serum carnitine deficiency. 61
8487489 1993
738
Gestational carrier--a reproductive haven for offspring of mothers with phenylketonuria (PKU): an alternative therapy for maternal PKU. 61
8127071 1993
739
Plasma phenylalanine and tyrosine levels revisited in heterozygotes for hyperphenylalaninaemia. 61
8487490 1993
740
Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: a report of 16 cases. 61
7609463 1993
741
The effect of hyperphenylalaninaemia on the muscarinic acetylcholine receptor in the HPH-5 mouse brain. 61
8127072 1993
742
Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme. 61
1282802 1992
743
"7-tetrahydrobiopterin," a naturally occurring analogue of tetrahydrobiopterin, is a cofactor for and a potential inhibitor of the aromatic amino acid hydroxylases. 61
1359535 1992
744
[Intellectual development of patients with phenylketonuria; 15-year national screening in The Netherlands]. 61
1461293 1992
745
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene]. 61
1288453 1992
746
7-substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency. Mechanism of formation via non-enzymatic transformation from 6-substituted pterins. 61
1355046 1992
747
Neurological outcome in 22 treated adolescents with hyperphenylalaninemia. A clinical and electrophysiological study. 61
1316707 1992
748
Maternal phenylketonuria collaborative study, obstetric aspects and outcome: the first 6 years. 61
1566767 1992
749
The teratogenic effects of undiagnosed maternal hyperphenylalaninaemia: a case for prevention? 61
1581284 1992
750
Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles. 61
1563085 1992
751
[Evaluation of the phenylalanine tolerance test in detection of heterozygote carriers of phenylketonuria gene]. 61
1437822 1992
752
[Atypical form of phenylketonuria caused by lack of dihydrobiopterin synthetase activity]. 61
1437828 1992
753
Hyperphenylalaninemia. 61
1549248 1992
754
Disturbed myelinogenesis and recovery in hyperphenylalaninemia in rats: an immunohistochemical study. 61
1537394 1992
755
[Differential diagnosis and therapy of various forms of hyperphenylalaninemia: facts and fiction]. 61
1413808 1992
756
Branched chain amino acids improve radial-arm maze acquisition and water maze forced-choice learning in rat offspring exposed in utero to hyperphenylalaninemia. 61
1593977 1992
757
Biopterin-responsive hyperphenylalaninemia. 61
1297822 1992
758
[A rare cause of neonatal hyperphenylalaninemia: tyrosinemia type I]. 61
1338924 1992
759
[Maternal phenylketonuria. Problems in detecting and risk educating identified females]. 61
1565107 1992
760
Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus. 61
1356171 1992
761
Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives. 61
1405481 1992
762
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. 61
1301187 1992
763
Myelin turnover in hyperphenylalaninaemia. A re-evaluation with the HPH-5 mouse. 61
1527991 1992
764
An occipito-temporal syndrome in adolescents with optimally controlled hyperphenylalaninaemia. 61
1434507 1992
765
[Genetics and hyperphenylalaninemias in 1992]. 54
1363245 1992
766
On the mechanism of permanent brain dysfunction in hyperphenylalaninemia. 61
1793607 1991
767
Clinical application of genotypic diagnosis for phenylketonuria: theoretical considerations. 61
1959535 1991
768
Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria. 61
1867197 1991
769
Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes. 61
2018035 1991
770
[High-dose methotrexate and hyperphenylalaninemia]. 61
2069475 1991
771
Detection of phenylketonuria in the very early newborn blood specimen. 61
1987536 1991
772
[Hyperphenylanalinemia and phenylketonuria. The importance of early diagnosis and follow up at a health center]. 61
2018258 1991
773
Management of inborn errors of metabolism during pregnancy. 61
1927527 1991
774
Agoraphobia in phenylketonuria. 61
1779621 1991
775
Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging. 61
2044589 1991
776
Conversion of 6-substituted tetrahydropterins to 7-isomers via phenylalanine hydroxylase-generated intermediates. 61
1988938 1991
777
[15 years of national screening for phenylketonuria in The Netherlands; 4th Report of the National Commission for Management of Phenylketonuria]. 61
2270129 1990
778
Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations. 61
1981599 1990
779
Phenylketonuria: contemporary screening and diagnosis. 61
2073089 1990
780
[Program of neonatal screening for phenylketonuria]. 61
2152214 1990
781
[Follow up protocol of patients with hyperphenylalaninemia]. 61
2096760 1990
782
7-Substituted pterins: formation during phenylalanine hydroxylation in the absence of dehydratase. 61
2244891 1990
783
Genetic analysis of treated and untreated phenylketonuria in one family. 61
1977916 1990
784
Protein metabolism in phenylketonuria and Lesch-Nyhan syndrome. 61
2235121 1990
785
Maternal phenylketonuria. 61
1696707 1990
786
Reduced myelinogenesis and recovery in hyperphenylalaninemic rats. Correlation between brain phenylalanine levels, characteristic brain enzymes for myelination, and brain development. 61
2095783 1990
787
Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria. 61
2365821 1990
788
Neuroblastoma in a patient with dihydropteridine reductase deficiency. 61
2209664 1990
789
Effects of untreated maternal hyperphenylalaninemia on the fetus: further study of families identified by routine cord blood screening. 61
2348297 1990
790
Cranial MR in phenylketonuria. 61
2335616 1990
791
Cognitive profile of rats exposed to lactational hyperphenylalaninemia: correspondence with human mental retardation. 61
2379759 1990
792
Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase. 61
2308957 1990
793
7-Substituted pterins. A new class of mammalian pteridines. 61
2303485 1990
794
Maternal phenylketonuria--the Irish experience. 61
2122129 1990
795
Transport of amino acids across the blood-brain barrier: implications for treatment of maternal phenylketonuria. 61
2122125 1990
796
A preliminary report of the collaborative study of maternal phenylketonuria in the United States and Canada. 61
2122127 1990
797
The use of N-ethyl-N-nitrosourea to produce mouse models for human phenylketonuria and hyperphenylalaninemia. 61
2381939 1990
798
Malignant hyperphenylalaninemia: CT and MR of the brain. 61
2105595 1990
799
Brain damage and recovery in hyperphenylalaninemic rats. 61
2159398 1990
800
Newborn screening for hyperphenylalaninemia on day 5: is 240 mumol/liter the most appropriate cut-off level? 61
2181433 1990
801
Transport of amino acids by the human placenta: predicted effects thereon of maternal hyperphenylalaninaemia. 61
2122124 1990
802
Relationship between plasma and red cell biopterins in acute and chronic hyperphenylalaninaemia. 61
2079837 1990
803
Dihydropteridine reductase activity in eluates from dried blood spots: automation of an assay for a national screening service. 61
2116547 1990
804
Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency. 61
2079836 1990
805
Nonphenylketonuric hyperphenylalaninemia. 61
2589280 1989
806
Novel PKU mutation on haplotype 2 in French-Canadians. 61
2574002 1989
807
Maternal phenylketonuria and hyperphenylalaninemia: implications for medical practice in the United States. 61
2686439 1989
808
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia. 61
2795366 1989
809
Egg and breast milk based nitrogen sources compared. 61
2510608 1989
810
Plasma amino acid concentrations in parenterally fed preterm infants. 61
2505693 1989
811
Biochemical and developmental features of experimental phenylketonuria induced by L-ethionine in suckling rats. 61
2742800 1989
812
Branched chain amino acids improve complex maze learning in rat offspring prenatally exposed to hyperphenylalaninemia: implications for maternal phenylketonuria. 61
2740145 1989
813
Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy. 61
2785251 1989
814
Blood selenium concentrations and glutathione peroxidase activity. 61
2705797 1989
815
Amino acid metabolism in thermal burns. 61
2651745 1989
816
[Differential diagnosis of increased phenylalanine blood level in infancy. Results of the German collaborative study on phenylketonuria (PKU)/hyperphenylalaninemia (HPA)]. 61
2654616 1989
817
[Scleroderma-like lesions and phenylketonuria (PKU). Role of hyperphenylalaninemia, efficacy of diet (3 cases)]. 61
2619165 1989
818
Modern techniques of differentiating the various phenotypes of phenylketonuria. 61
2576129 1989
819
[5-HIAA: perspectives in nephrology]. 61
2476203 1989
820
Neurological deterioration in adult phenylketonuria. 61
2516176 1989
821
Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin. 61
2675577 1989
822
The role of the blood-brain barrier in the aetiology of permanent brain dysfunction in hyperphenylalaninaemia. 61
2501582 1989
823
Neutral amino acid transport at the human blood-brain barrier. 61
2848825 1988
824
New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins. 61
3234449 1988
825
Evoked potentials and electroencephalography in adolescents with phenylketonuria. 61
3264602 1988
826
The development of the muscarinic acetylcholine receptor in normal and hyperphenylalaninemic rat cerebrum. 61
3226469 1988
827
Studies on experimentally induced hyperphenylalaninemia. 61
2975336 1988
828
Phenylketonuria in Greece: 12 years' experience. 61
2905748 1988
829
PKU and NON-PKU hyperphenylalaninemia: differentiation, indication for therapy and therapeutic results. 61
3150227 1988
830
The New England Maternal PKU Project: identification of at-risk women. 61
3381953 1988
831
Effect of experimental hyperphenylalaninemia induced by dietary phenylalanine plus alpha-methylphenylalanine administration on amino acid concentration in neonatal chick brain, plasma, and liver. 61
3405379 1988
832
Inhibition of brain and liver 3-hydroxy-3-methylglutaryl-CoA reductase and mevalonate-5-pyrophosphate decarboxylase in experimental hyperphenylalaninemia. 61
3405380 1988
833
[Offspring of mothers with hyperphenylalaninemia treated with a low phenylalanine diet before conception and during pregnancy]. 61
3401904 1988
834
Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia. 61
3382399 1988
835
Hyperphenylalaninemia in malignant histiocytosis and virus-associated hemophagocytic syndrome. 61
3389140 1988
836
[Malignant hyperphenylalaninemia--tetrahydrobiopterin (BH4) deficiency]. 61
3270853 1988
837
Hyperphenylalaninemia syndromes: current status of diagnosis and management. 61
3286956 1988
838
hph-1: a mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosourea mutagenesis. 61
3360305 1988
839
Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiency. 61
3366132 1988
840
Two mutations of dihydropteridine reductase deficiency. 61
2894818 1988
841
The effects of maternal hyperphenylalaninemia on learning in mature rats. 61
3172977 1988
842
[Disease course in 20 patients with an early diagnosis of phenylketonuria and hyperphenylalaninemia]. 61
3344414 1988
843
Pattern reversal visual evoked potentials in phenylketonuria. 61
3149700 1988
844
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital. 61
3148069 1988
845
Hyperphenylalaninemia in the hph-1 mouse mutant. 61
3340448 1988
846
Mendelian hyperphenylalaninemia. 61
3071251 1988
847
Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase. 61
3222065 1988
848
Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers. 61
3276524 1988
849
Phenylalanine uptake in neonatal and infant rat brain. 61
3203122 1988
850
Localization of mouse phenylalanine hydroxylase locus on chromosome 10. 61
3378451 1988
851
Biochemical and nutritional status of children with hyperphenylalaninaemia. 61
3149704 1988
852
Changes in phenylalanine tolerance while monitoring the dietetic treatment of pregnant women suffering from hyperphenylalaninaemia. 61
3149703 1988
853
Neuropsychological studies on adolescents with phenylketonuria returned to phenylalanine-restricted diets. 61
3426836 1987
854
Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes. 61
3308682 1987
855
Experimental hyperphenylalaninemia in the pregnant guinea pig: possible phenylalanine teratogenesis and p-chlorophenylalanine embryotoxicity. 61
2962329 1987
856
Hyperphenylalaninaemia in parenterally fed newborn infants. 61
2889934 1987
857
[Determination of phenylalanine-4-hydroxylase as a parameter in the differential diagnosis of hyperphenylalaninemia]. 61
3664770 1987
858
[Transitory hyperphenylalaninemia with a tetrahydrobiopterin synthesis deficiency]. 61
3652262 1987
859
[Recent advances in inborn errors of metabolism]. 61
3322240 1987
860
ReCAP: the Registry of Cytogenetic Abnormalities and Phenylketonuria. 61
3605218 1987
861
"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity. 61
3297709 1987
862
Developmental changes of myelin-associated glycoprotein in rat brain: study on experimental hyperphenylalaninemia. 61
2438567 1987
863
Extracorporeal enzyme reactors for depletion of phenylalanine in phenylketonuria. 61
3826953 1987
864
Pre-conceptual dietary management for maternal phenylketonuria. 61
3591294 1987
865
Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency. 61
3031582 1987
866
Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening. 61
3822637 1987
867
Cerebral serotonin regulation by phenylalanine analogues and during hyperphenylalaninemia. 61
2436623 1987
868
Cerebral glycine content and phosphoserine phosphatase activity in hyperaminoacidemias. 61
3035402 1987
869
[Trial of indirect screening of tetrahydrobiopterin deficiency]. 61
3444720 1987
870
[Limitations of the classification and nomenclature of hyperphenylalaninemia]. 61
3449008 1987
871
On a possible mechanism of abnormal brain development in experimental hyperphenylalaninemia. 61
20501135 1987
872
Enzymology of the phenylalanine-hydroxylating system. 61
3326734 1987
873
[Measurement in samples of dry blood of dihydropteridine reductase and ratio of total biopterin in hyperphenylalaninemia and other neurological diseases]. 61
3449009 1987
874
Discrimination of heterozygotes for phenylketonuria, persistent hyperphenylalaninemia and controls by phenylalanine loading. 61
3802540 1986
875
[Evaluation of 6-years' experience of screening for hyperphenylalaninemia caused by cofactor deficiency]. 61
3827510 1986
876
Hyperphenylalaninaemia in parenterally fed newborn babies. 61
2878269 1986
877
[Malignant hyperphenylalaninemia with dihydropteridine reductase deficiency]. 61
3791474 1986
878
Hyperphenylalaninaemia in parenterally fed newborn babies. 61
2878166 1986
879
Hyperphenylalaninaemia in parenterally fed newborn babies. 61
2430153 1986
880
Unsolved problems in diagnosis and therapy of hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism. 61
3489828 1986
881
Plasma amino acid levels after single-dose aspartame consumption in phenylketonuria, mild hyperphenylalaninemia, and heterozygous state for phenylketonuria. 61
3761084 1986
882
Prevention of fetal damage through dietary control of maternal hyperphenylalaninemia. 61
3757336 1986
883
Follow-up study of 16 years neonatal screening for inborn errors of metabolism in West Germany. 61
3770001 1986
884
Fatty acid composition of myelin lipids from developing rat forebrain and spinal cord: influence of experimental hyperphenylalaninaemia. 61
3785547 1986
885
Paternal hyperphenylalaninemia. 61
3737296 1986
886
Induction of hyperphenylalaninemia in mice by ethionine and phenylalanine. 61
3741696 1986
887
[Hyperphenylalaninemia and prematurity]. 61
3092425 1986
888
Cortical dendritic spine loss in rat pups whose mothers were prenatally injected with phenylacetate ('maternal PKU' model). 61
3708382 1986
889
Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders. 61
3702929 1986
890
Neurological aspects of biopterin metabolism. 61
3954438 1986
891
Effects of phenylalanine loading on protein synthesis in the fetal heart and brain of rat: an experimental approach to maternal phenylketonuria. 61
2941618 1986
892
An extracorporeal hollow-fiber reactor for phenylketonuria using immobilized phenylalanine ammonia lyase. 61
3956347 1986
893
A model for hyperphenylalaninaemia due to tetrahydrobiopterin deficiency. 61
3088325 1986
894
Diagnosis in relationship to treatment of hyperphenylalaninaemia. 61
3095586 1986
895
Lysosomal protein degradation in experimental hyperphenylalaninaemia. 61
3099071 1986
896
Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test. 61
4064343 1985
897
Origins of hyperphenylalaninemia in burn patients. 61
16831729 1985
898
[Effect of chronic hyperphenylalaninemia and hypoxia on the effectiveness of the alpha-ketoglutarate shunt in the brain]. 61
4074794 1985
899
Effects of hyperphenylalaninemia in the fetal stage on the postnatal development of fetal rat brain. 61
2997643 1985
900
[Active form of dihydropteridine reductase in human chorion cells. Possibility of prenatal diagnosis].