DOI: 10.1055/s-00029022

Journal of Pediatric Biochemistry


Niederwieser A, Blau N, Wang M, Joller P, Atarés M, Cardesa-Garcia J.
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.

Eur J Pediatr 1984;
141 (4) 208-214

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