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

Background: Pterin profiles or molecular analyses of hyperphenylalaninemia (HPA) caused by phenylalanine hydroxylase (PAH) deficiency or tetrahydrobiopterin deficiency (BH4D) are not always available in low- or middle-income countries, including Mexico, limiting information regarding the phenotypic...

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Detalles Bibliográficos
Autores principales:	Vela-Amieva, M., Alcántara-Ortigoza, M. A., Ibarra-González, I., González-del Angel, A., Fernández-Hernández, L., Guillén-López, S., López-Mejía, L., Carrillo-Nieto, R. I., Fiesco-Roa, M. O., Fernández-Lainez, C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9597361/ https://www.ncbi.nlm.nih.gov/pubmed/36313470 http://dx.doi.org/10.3389/fgene.2022.993612

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