Associated Papers
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
Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.
Balobaid A et al.
Genetic Testing and Molecular Biomarkers, 2023
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
Vela-Amieva M et al.
Genes, 2021
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
Vela-Amieva M et al.
Clinical Genetics, 2015
Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria.
Biglari A et al.
Springerplus, 2015
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
Couce ML et al.
Gene, 2013
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
Bueno MA et al.
Journal of Human Genetics, 2013
Phenylketonuria mutations in Northern China.
Song F et al.
Molecular Genetics and Metabolism, 2005
PAHdb 2003: what a locus-specific knowledgebase can do.
Scriver CR et al.
Human Mutation, 2003
[Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria].
Nechiporenko MV et al.
Tsitologiia I Genetika, 0
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