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Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy

Phosphoenolpyruvate carboxykinase (PCK) plays a critical role in cytosolic gluconeogenesis, and defects in PCK1 cause a fasting-aggravated metabolic disease with hypoglycemia and lactic acidosis. However, there are two genes encoding PCK, and the role of the mitochondrial resident PCK (encoded by PC...

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Detalles Bibliográficos
Autores principales:	Sondheimer, Neal, Aleman, Alberto, Cameron, Jessie, Gonorazky, Hernan, Sabha, Nesrin, Oliveira, Paula, Amburgey, Kimberly, Wahedi, Azizia, Wang, Dahai, Shy, Michael, Dowling., James J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2023
Materias:	Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947396/ https://www.ncbi.nlm.nih.gov/pubmed/36845668 http://dx.doi.org/10.1016/j.xhgg.2023.100182

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