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Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency

Pyruvate dehydrogenase (PDH) deficiency is caused by a number of pathogenic variants and the most common are found in the PDHA1 gene. The PDHA1 gene encodes one of the subunits of the PDH enzyme found in a carbohydrate metabolism pathway involved in energy production. Pathogenic variants of PDHA1 ge...

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Detalles Bibliográficos
Autores principales:	Karissa, Patricia, Simpson, Timothy, Dawson, Simon P., Low, Teck Yew, Tay, Sook Hui, Nordin, Fatimah Diana Amin, Zain, Shamsul Mohd, Lee, Pey Yee, Pung, Yuh-Fen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Health Archive
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9302545/ https://www.ncbi.nlm.nih.gov/pubmed/35996497 http://dx.doi.org/10.3389/bjbs.2022.10382

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