Tetrahydrobiopterin (Bh4) deficiencies: diagnosis and treatment

Tetrahydrobiopterin (BH4) is an enzyme cofactor of phenylalanine hydroxylase, tyrosine hydroxylase and tryptophan hydroxylase. Three different enzymes affect BH4 synthesis: guanosine triphosphate cyclohydrolase I (GTP CH 1), 6-piruvoil tetrahydropterin synthase (PTPS), sepiapterin reductase (SR) and...

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Bibliographic Details
Main Author: Mercedes Martínez-Pardo
Format: Article
Language:Spanish
Published: Instituto Nacional de Pediatría 2014-07-01
Series:Acta Pediátrica de México
Subjects:
Online Access:http://ojs.actapediatrica.org.mx/index.php/APM/article/view/594