Associated Papers
Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.
Nguyen TT et al.
Molecular Genetics & Genomic Medicine, 2022
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
Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.
Montani D et al.
The European Respiratory Journal, 2021
Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population.
Gamou S et al.
Clinical Genetics, 2018
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Gräf S et al.
Nature Communications, 2018
29650961 (PubMed )
Supplement: 41467_2018_3672_MOESM1_ESM.xlsx › Suppl._Dataset_1
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
De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension.
Momose Y et al.
Annals of Human Genetics, 2015
Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.
Liu D et al.
The European Respiratory Journal, 2012
Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension.
Wang H et al.
Clinical Genetics, 2010
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
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
Desviat LR et al.
European Journal of Human Genetics : Ejhg, 1999
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.
Pérez B et al.
American Journal of Human Genetics, 1997
Select a paper to view details