Plasma biopterin levels and tetrahydrobiopterin responsiveness

Molecular Genetics and Metabolism

Volumn 86, Issue SUPPL., 2005, Pages 104-106

  Shintaku, Haruo ^a   Fujioka, Hiroki ^a   Sawada, Yoshitomo ^b   Asada, Minoru ^a   Yamano, Tsunekazu ^a  

^a OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b OSAKA CITY GENERAL HOSPITAL   (Japan)

Author keywords

BH4; BH4 loading test; Biopterin; Gene mutation; Mild hyperphenylalaninemia; Mild PKU; Phenylalanine hydroxylase; Tetrahydrobiopterin

Indexed keywords

BIOPTERIN; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; DRUG RESPONSE; HUMAN; HYPERPHENYLALANINEMIA; LOADING TEST; METABOLISM; MUTATION; NEWBORN; NEWBORN SCREENING; PHENYLKETONURIA; PRIORITY JOURNAL;

EID: 28844455575     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.06.018     Document Type: Article

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