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Article

Guide for diagnosis and treatment of hyperphenylalaninemia.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2021

Shintaku Haruo, Ohura Toshihiro, Takayanagi Masaki, Kure Shigeo, Owada Misao, Matsubara Yoichi, Yoshino Makoto, Okano Yoshiyuki, Ito Tetsuya, Okuyama Torayuki, Nakamura Kimitoshi, Matuo Masafumi, Endo Fumio, Ida Hiroyuki

Abstract excerpt

IMPORTANCE: Sapropterin hydrochloride, a natural coenzyme (6R-tetrahydrobiopterin) of phenylalanine hydroxylase, was first approved as a treatment for tetrahydrobiopterin deficiency in 1992 in Japan, and was then approved as a treatment for a tetrahydrobiopterin-responsive hyperphenylalaninemia in 2007 and 2008, in the USA and Japan, respectively. Guidelines are required on the proper use of sapropterin...

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PMID: 33423362
DOI: 10.1111/ped.14399

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