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Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type

✍ Scribed by Célia Nogueira; Chiara Aiello; Roberto Cerone; Esmeralda Martins; Ubaldo Caruso; Isabella Moroni; Cristiano Rizzo; Luísa Diogo; Elisa Leão; Fernando Kok; Federica Deodato; Maria Cristina Schiaffino; Sara Boenzi; Olivier Danhaive; Clara Barbot; Sílvia Sequeira; Mattia Locatelli; Filippo M. Santorelli; Graziella Uziel; Laura Vilarinho; Carlo Dionisi-Vici

Book ID
116988312
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
635 KB
Volume
93
Category
Article
ISSN
1096-7192

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Genetic and cellular studies of oxidativ
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