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Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis

Pyruvate carboxylase (PC) is a biotin-containing mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, thereby being involved in gluconeogenesis and in energy production through replenishment of the tricarboxylic acid (TCA) cycle with oxaloacetate. PC deficiency is a very r...

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Detalles Bibliográficos
Autores principales:	Habarou, F., Brassier, A., Rio, M., Chrétien, D., Monnot, S., Barbier, V., Barouki, R., Bonnefont, J.P., Boddaert, N., Chadefaux-Vekemans, B., Le Moyec, L., Bastin, J., Ottolenghi, C., de Lonlay, P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471145/ https://www.ncbi.nlm.nih.gov/pubmed/28649521 http://dx.doi.org/10.1016/j.ymgmr.2014.11.001

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