| 1 |
A bone mineralization defect in the Pahenu2 model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation. ( 30201326
)
|
Dobrowolski SF...Blair HC
|
2018 |
| 2 |
Vitamin/mineral and micronutrient status in patients with classical phenylketonuria. ( 29433755
)
|
Kose E...Arslan N
|
2018 |
| 3 |
Demethylation of the promoter region of GPX3 in a newborn with classical phenylketonuria. ( 27742442
)
|
Item CB...Konstantopoulou V
|
2017 |
| 4 |
Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations. ( 28182360
)
|
Dehghanian F...Tabei SM
|
2017 |
| 5 |
Successful Linkage Analysis in Classical Phenylketonuria Families Followed by Direct Sequencing and Mutation Detection. ( 27156318
)
|
Silawi M...Tabei SM
|
2016 |
| 6 |
[The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family]. ( 25449068
)
|
Yan Y...Huang S
|
2014 |
| 7 |
Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria. ( 23465864
)
|
Hartnett C...Stockler-Ipsiroglu S
|
2013 |
| 8 |
Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU). ( 22290024
)
|
Huemer M...Bodamer OA
|
2012 |
| 9 |
[Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis]. ( 23225049
)
|
Zhou YA...Yu L
|
2012 |
| 10 |
Blood phenylalanine clearance and BH(4)-responsiveness in classic phenylketonuria. ( 21592835
)
|
Bik-Multanowski M...Pietrzyk JJ
|
2011 |
| 11 |
Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria. ( 19652961
)
|
Manara R...Burlina AB
|
2009 |
| 12 |
Prevalence of classical phenylketonuria in mentally retarded individuals in Iran. ( 19768570
)
|
Ghiasvand NM...Saeb Taheri GR
|
2009 |
| 13 |
Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria. ( 18249021
)
|
Huemer M...M?slinger D
|
2008 |
| 14 |
Successful neurological outcome of a child with classical phenylketonuria and acute lymphoblastic leukemia: a 7-year follow-up. ( 17480007
)
|
Wang C...Campbell K
|
2007 |
| 15 |
Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature. ( 17628756
)
|
Huemer M...St?ckler-Ipsiroglu S
|
2007 |
| 16 |
Cerebral glucose metabolism in adults with early treated classic phenylketonuria. ( 16343970
)
|
Wasserstein MP...Buchsbaum MS
|
2006 |
| 17 |
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. ( 15991863
)
|
Gassi? R...Campistol J
|
2005 |
| 18 |
Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria. ( 15922970
)
|
G?mez A...Stevens RC
|
2005 |
| 19 |
Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. ( 16242984
)
|
Trefz FK...Blau N
|
2005 |
| 20 |
[Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria]. ( 15793771
)
|
Zhang J...Wang Y
|
2005 |
| 21 |
Immune function in children with classical phenylketonuria and tetrahydrobiopterin deficiencies. ( 14530542
)
|
Karagoz T...Ersoy F
|
2003 |
| 22 |
Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria. ( 12555936
)
|
Weglage J...M?ller HE
|
2002 |
| 23 |
Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria. ( 11078575
)
|
Keller K...Muenke M
|
2000 |
| 24 |
Postnatal growth in a mouse genetic model of classical phenylketonuria. ( 11487255
)
|
McDonald JD
|
2000 |
| 25 |
Evaluation of an aspartame loading test for the detection of heterozygotes for classical phenylketonuria. ( 9184243
)
|
Silva LC...Giugliani R
|
1997 |
| 26 |
Complete reversal of moderate/severe brain MRI abnormalities in a patient with classical phenylketonuria. ( 9266357
)
|
Walter JH...Wilson BP
|
1997 |
| 27 |
Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer. ( 9427141
)
|
Lin CM...Hsiao KJ
|
1997 |
| 28 |
Long-term follow up of patients with classical phenylketonuria after diet relaxation at 5 years of age. The Paris Study. ( 8828607
)
|
Rey F...Rey J
|
1996 |
| 29 |
Classical phenylketonuria associated with Goldenhar's syndrome. A case report. ( 8016917
)
|
Tokatli A...Balci S
|
1994 |
| 30 |
Long-term follow-up of children with classical phenylketonuria after diet discontinuation: a review. ( 8077570
)
|
Potocnik U...Widhalm K
|
1994 |
| 31 |
[DNA analysis in classic phenylketonuria--screening for mutations and haplotype analysis in Slovak families]. ( 7812811
)
|
K?dasi L...Fer?k V
|
1994 |
| 32 |
Treatment variables and intellectual outcome in children with classic phenylketonuria. A single-center-based study. ( 8365077
)
|
Legido A...Grover WD
|
1993 |
| 33 |
Neurophysiological studies of patients with classical phenylketonuria: evaluation of results of IQ scores, EEG and evoked potentials. ( 8236512
)
|
Co?kun T...Nurlu G
|
1993 |
| 34 |
Iron status and iron supplementation in children with classical phenylketonuria. ( 8263269
)
|
Miranda da Cruz BD...Widhalm K
|
1993 |
| 35 |
Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria. ( 1867197
)
|
Avigad S...Shiloh Y
|
1991 |
| 36 |
Heterozygous carriers of classical phenylketonuria in a sample of the Turkish population: detection by a spectrofluorimetric method. ( 1843186
)
|
G?neral F...Tatlidil H
|
1991 |
| 37 |
Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria. ( 2365821
)
|
Thompson GN...Halliday D
|
1990 |
| 38 |
Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations. ( 1981599
)
|
Kalaydjieva L...Horst J
|
1990 |
| 39 |
A Chinese classic phenylketonuria manifested as autism. ( 2597924
)
|
Chen CH...Hsiao KJ
|
1989 |
| 40 |
Introduction of genomic diagnosis of classical phenylketonuria to the health care system of the German Democratic Republic. ( 2890455
)
|
Riess O...Coutelle C
|
1987 |
| 41 |
A simple method for detection of heterozygous carriers of the gene for classic phenylketonuria. ( 3761073
)
|
Hilton MA...Andrews BF
|
1986 |
| 42 |
Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis. ( 2880342
)
|
Speer A...Coutelle C
|
1986 |
| 43 |
Typing of families with classical phenylketonuria using three alleles of the Hindiii linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe. Family typing for PKU by linked HindIII RFLP. ( 3017615
)
|
Speer A...Coutelle C
|
1986 |
| 44 |
Pubertal maturation and classical phenylketonuria. ( 3099074
)
|
Scaglioni S...Giovannelli G
|
1986 |
| 45 |
Prenatal diagnosis of classic phenylketonuria by DNA analysis. ( 2857902
)
|
Lidsky AS...Woo SL
|
1985 |
| 46 |
Study of serum ferritin in 58 children with classic phenylketonuria and persistent hyperphenylalaninaemia. ( 3939594
)
|
Scaglioni S...Giovannini M
|
1985 |
| 47 |
Amino acid and protein requirements in a preterm infant with classic phenylketonuria. ( 3985660
)
|
Shortland D...Wolff OH
|
1985 |
| 48 |
Prenatal diagnosis and carrier detection of classic phenylketonuria by gene analysis. ( 6472974
)
|
Woo SL
|
1984 |
| 49 |
Prenatal diagnosis of classical phenylketonuria by gene mapping. ( 6700105
)
|
Woo SL...Robson KJ
|
1984 |
| 50 |
Neurophysiological, psychological, and nutritional investigations during discontinuation of the phenylalanine-restricted diet in children with classic phenylketonuria. ( 6615595
)
|
Pueschel SM...Matsumiya Y
|
1983 |
