Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
Shigeo Kure, Dian-Chang Hou, Toshihiro Ohura, Hiroko Iwamoto, Shuhei Suzuki, Naruji Sugiyama, Osamu Sakamoto, Kunihiro Fujii, Yoichi Matsubara, Kuniaki Narisawa
Abstract
Shigeo Kure, Dian-Chang Hou, Toshihiro Ohura, Hiroko Iwamoto, Shuhei Suzuki, Naruji Sugiyama, Osamu Sakamoto, Kunihiro Fujii, Yoichi Matsubara, Kuniaki Narisawa
Abstract
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Key concepts: Phenylalanine hydroxylase, Tetrahydrobiopterin, Hyperphenylalaninemia, Pteridine, Phenylalanine, Medicine, Endocrinology, Pterin