Associated Papers
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.
Zhang Z et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2018
A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.
Higasa K et al.
Bmc Pulmonary Medicine, 2017
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Anjema K et al.
Orphanet Journal of Rare Diseases, 2013
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
Couce ML et al.
Gene, 2013
Risk factors for developing mineral bone disease in phenylketonuric patients.
Mirás A et al.
Molecular Genetics and Metabolism, 2013
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
Guldberg P et al.
American Journal of Human Genetics, 1998
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