Associated Papers
Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders.
Kuzucu FN et al.
Metabolic Brain Disease, 2025
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Adams AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.
Zhang C et al.
Human Genomics, 2023
Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province.
Zeng B et al.
Frontiers in Genetics, 2023
Neonatal phenylalanine wash-out in phenylketonuria.
Porta F et al.
Metabolic Brain Disease, 2020
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.
Kuznetcova I et al.
Metabolic Brain Disease, 2019
Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management.
Yıldız Y et al.
European Journal of Pediatrics, 2019
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
Scala I et al.
Orphanet Journal of Rare Diseases, 2015
[Analysis for phenylalanine hydroxylase gene mutations in 35 ethnic Hui children from Ningxia with phenylketonuria].
Mao X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Anjema K et al.
Orphanet Journal of Rare Diseases, 2013
The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
Georgiou T et al.
Clinical Biochemistry, 2012
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
Sarkissian CN et al.
Jimd Reports, 2012
Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin.
Vilaseca MA et al.
Clinical Biochemistry, 2010
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.
Daniele A et al.
The Febs Journal, 2009
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
Daniele A et al.
Annals of Human Genetics, 2007
Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.
Bélanger-Quintana A et al.
Molecular Genetics and Metabolism, 2005
Tetrahydrobiopterin responsiveness in patients with phenylketonuria.
Pérez-Dueñas B et al.
Clinical Biochemistry, 2004
Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.
Zekanowski C et al.
Journal of Medical Screening, 2001
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
Molecular basis of mild hyperphenylalaninaemia in Poland.
Zekanowski C et al.
Journal of Medical Genetics, 1997