Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

Methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) is the most frequent genetic disorder of vitamin B₁₂ metabolism. The aim of this work was to identify the mutational spectrum in a cohort of cblC-affected patients and the analysis of the cellular oxidative...

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Published in:	Human mutation Vol. 30; no. 11; pp. 1558 - 1566
Main Authors:	Richard, Eva, Jorge-Finnigan, Ana, Garcia-Villoria, Judit, Merinero, Begoña, Desviat, Lourdes R, Gort, Laura, Briones, Paz, Leal, Fátima, Pérez-Cerdá, Celia, Ribes, Antonia, Ugarte, Magdalena, Pérez, Belén
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-11-2009
Subjects:	Apoptosis - genetics Carrier Proteins - genetics Genetic Association Studies homocystinuria Homocystinuria - genetics Humans methylmalonic aciduria Mitochondria - metabolism MMACHC Oxidative Stress Reactive Oxygen Species - metabolism Superoxide Dismutase - metabolism Vitamin B 12 - pharmacology Vitamin B 12 Deficiency - genetics
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