Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

Per Guldberg, Françoise Rey, Johannes Zschocke et al. · The American Journal of Human Genetics · 1998 · 357 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

Harvey L. Levy, Andrzej Milanowski, Anupam Chakrapani et al. · The Lancet · 2007 · 311 citations

Pharmacy, Pharmacotherapy, Clinical Nutrition +6

Tetrahydrobiopterin as an Alternative Treatment for Mild Phenylketonuria

Ania C. Muntau, Wulf Röschinger, Matthias Habich et al. · New England Journal of Medicine · 2002 · 305 citations · Full text

Life Sciences, Biochemistry, Pharmacotherapy +13

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Shigeo Kure, Dian-Chang Hou, Hiroko Iwamoto et al. · The Journal of Pediatrics · 1999 · 298 citations

Life Sciences, Biochemistry, Endocrinology +11