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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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2014
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5471145/
https://ncbi.nlm.nih.gov/pubmed/28649521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.11.001
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