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
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Garbade SF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin.
Vilaseca MA et al.
Clinical Biochemistry, 2010
[Independent origin of rare Y168H mutation of human phenylalanine hydroxylase gene in Russia].
Brenner EV et al.
Genetika, 2008
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
Tetrahydrobiopterin responsiveness in patients with phenylketonuria.
Pérez-Dueñas B et al.
Clinical Biochemistry, 2004
[Identification of mutation of the phenylalanine hydroxylase gene using an automated DNA sequencer].
Smagulova FO et al.
Genetika, 2004
[New polymorphic sites in the structure of the human phenylalanine hydroxylase gene].
Smagulova FO et al.
Genetika, 2000
[Clinical, biomedical , neurological and molecular study of 11 patients with new mutations in PAH gene].
Mallolas J et al.
Revista De Neurologia, 0
[Mutation analysis of the phenylalanine hydroxylase gene of phenylketonuria patients of Kemerovskaya Oblast' and Saha Republic].
Baturina OA et al.
Tsitologiia I Genetika, 0
Select a paper to view details