Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center

Vela-Amieva, M; Alcantara-Ortigoza, MA; Ibarra-Gonzalez, I; Gonzalez-Del Angel, A; Fernandez-Hernandez, L; Guillen-Lopez, S; Lopez-Mejia, L; Carrillo-Nieto, RI; Fiesco-Roa, MO; Fernandez-Lainez, C

Fernandez-Lainez, C (通讯作者)，Inst Nacl Pediat, Lab Errores Innatos Metabolismo & Tamiz, Secretaria Salud, Ciudad De Mexico, Mexico.

FRONTIERS IN GENETICS, 2022; 13 ():

Abstract

Background: Pterin profiles or molecular analyses of hyperphenylalaninemia (HPA) caused by phenylalanine hydroxylase (PAH) deficiency or tetrahydrobio......

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