Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase Gene

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

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Haruo Shintaku, Shigeo Kure, Toshihiro Ohura et al. · Zhongguo dangdai erke zazhi · 2005 · 254 citations

Life Sciences, Biochemistry, Endocrinology +11

An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2

Anthony G. DiLella, Joshua Marvi, Kelly A. Brayton et al. · Nature · 1987 · 177 citations

Life Sciences, Genetics, Molecular Genetics +13

Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency: Diagnosis by Enzyme Assays on Dried Blood Spots

Nobuhiro Arai, Kuniaki Narisawa, Hiroshi Hayakawa et al. · PEDIATRICS · 1982 · 100 citations

Medicine, Biochemistry, Endocrinology +11