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Tetrahydrobiopterin responsiveness in a large series of phenylke tonuria patients
Author(s) -
Weglage J.,
Grenzebach M.,
TeeffelenHeithoff A. v.,
Marquardt T.,
Feldmann R.,
Denecke J.,
Gödde D.,
Koch H. G.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1016514727870
Subject(s) - tetrahydrobiopterin , hyperphenylalaninemia , phenylalanine , medicine , metabolic disease , phenylalanine hydroxylase , endocrinology , biopterin , pediatrics , chemistry , biochemistry , amino acid , nitric oxide synthase , nitric oxide
In a group of 87 consecutive patients with hyperphenylalaninaemia born since 1990, only 3 patients showed a (temporary) decrease of serum phenylalanine levels after tetrahydrobiopterin (BH 4 ) loading in usual doses (20 mg/kg body weight).