| 1 |
Vitamin/mineral and micronutrient status in patients with classical phenylketonuria. ( 29433755
)
|
|
2018 |
| 2 |
A bone mineralization defect in the Pahenu2 model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation. ( 30201326
)
|
Dobrowolski SF...Blair HC
|
2018 |
| 3 |
Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations. ( 28182360
)
|
Dehghanian F...Tabei SM
|
2017 |
| 4 |
Successful Linkage Analysis in Classical Phenylketonuria Families Followed by Direct Sequencing and Mutation Detection. ( 27156318
)
|
Silawi M....Tabei S.M.
|
2016 |
| 5 |
Demethylation of the promoter region of GPX3 in a newborn with classical phenylketonuria. ( 27742442
)
|
Item C.B....Konstantopoulou V.
|
2016 |
| 6 |
[The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family]. ( 25449068
)
|
|
2014 |
| 7 |
Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria. ( 23465864
)
|
Hartnett C....Stockler-Ipsiroglu S.
|
2013 |
| 8 |
[Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis]. ( 23225049
)
|
Zhou Y.A....Yu L.
|
2012 |
| 9 |
Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU). ( 22290024
)
|
|
2012 |
| 10 |
Blood phenylalanine clearance and BH(4)-responsiveness in classic phenylketonuria. ( 21592835
)
|
Bik-Multanowski M....Pietrzyk J.J.
|
2011 |
| 11 |
Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria. ( 19652961
)
|
Manara R....Burlina A.B.
|
2009 |
| 12 |
Prevalence of classical phenylketonuria in mentally retarded individuals in Iran. ( 19768570
)
|
|
2009 |
| 13 |
Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria. ( 18249021
)
|
|
2008 |
| 14 |
Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature. ( 17628756
)
|
Huemer M....StAPckler-Ipsiroglu S.
|
2007 |
| 15 |
Successful neurological outcome of a child with classical phenylketonuria and acute lymphoblastic leukemia: a 7-year follow-up. ( 17480007
)
|
Wang C....Campbell K.
|
2007 |
| 16 |
Cerebral glucose metabolism in adults with early treated classic phenylketonuria. ( 16343970
)
|
|
2006 |
| 17 |
[Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria]. ( 15793771
)
|
Zhang J....Wang Y.
|
2005 |
| 18 |
Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. ( 16242984
)
|
Trefz F.K....Blau N.
|
2005 |
| 19 |
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. ( 15991863
)
|
|
2005 |
| 20 |
Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria. ( 15922970
)
|
|
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 |
Two novel mutations in exon 11 of the PAH gene (1163/1164 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria. ( 10200057
)
|
|
1998 |
| 25 |
Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer. ( 9427141
)
|
Lin C.M....Hsiao K.J.
|
1997 |
| 26 |
[DNA analysis in classic phenylketonuria--screening for mutations and haplotype analysis in Slovak families]. ( 7812811
)
|
KA!dasi L....FerA!k V.
|
1994 |
| 27 |
Treatment variables and intellectual outcome in children with classic phenylketonuria. A single-center-based study. ( 8365077
)
|
Legido A....Grover W.D.
|
1993 |
| 28 |
Heterozygous carriers of classical phenylketonuria in a sample of the Turkish population: detection by a spectrofluorimetric method. ( 1843186
)
|
|
1991 |
| 29 |
Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria. ( 2365821
)
|
Thompson G.N....Halliday D.
|
1990 |
| 30 |
A Chinese classic phenylketonuria manifested as autism. ( 2597924
)
|
|
1989 |
| 31 |
A simple method for detection of heterozygous carriers of the gene for classic phenylketonuria. ( 3761073
)
|
Hilton M.A....Andrews B.F.
|
1986 |
| 32 |
Study of serum ferritin in 58 children with classic phenylketonuria and persistent hyperphenylalaninaemia. ( 3939594
)
|
Scaglioni S....Giovannini M.
|
1985 |
| 33 |
Prenatal diagnosis of classic phenylketonuria by DNA analysis. ( 2857902
)
|
|
1985 |
| 34 |
Amino acid and protein requirements in a preterm infant with classic phenylketonuria. ( 3985660
)
|
|
1985 |
| 35 |
Prenatal diagnosis and carrier detection of classic phenylketonuria by gene analysis. ( 6472974
)
|
|
1984 |
| 36 |
Neurophysiological, psychological, and nutritional investigations during discontinuation of the phenylalanine-restricted diet in children with classic phenylketonuria. ( 6615595
)
|
Pueschel S.M....Matsumiya Y.
|
1983 |
| 37 |
Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. ( 6316140
)
|
Woo S.L....Robson K.J.
|
1983 |
| 38 |
Classic phenylketonuria: diagnosis through heterozygote detection. ( 1127497
)
|
Griffin R.F....Elsas L.J.
|
1975 |
| 39 |
Classic phenylketonuria: heterozygote detection during pregnancy. ( 4773479
)
|
|
1973 |
