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Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects

✍ Scribed by Richard, Eva; Desviat, Lourdes R.; Ugarte, Magdalena; Pérez, Belén

Book ID
118762510
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
248 KB
Volume
114
Category
Article
ISSN
0730-2312

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Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)
✍ Eva Richard; Ana Jorge-Finnigan; Judit Garcia-Villoria; Begoña Merinero; Lourdes 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 254 KB

Methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) is the most frequent genetic disorder of vitamin B 12 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