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Molecular and Structural Analysis of Two Novel Mutations in a Patient with Mut− Methylmalonyl-CoA Deficiency

✍ Scribed by Jean-François Benoist; Cecile Acquaviva; Isabelle Callebaut; Nathalie Guffon; Hélène Ogier de Baulny; Jean-Paul Mornon; Dominique Porquet; Jacques Elion

Book ID
115639800
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
136 KB
Volume
72
Category
Article
ISSN
1096-7192

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Molecular basis of methylmalonyl-CoA mut
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut° and mut– forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT gene
✍ Cécile Acquaviva; Jean-François Benoist; Sabrina Pereira; Isabelle Callebaut; Th 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 204 KB

## Communicated by Johannes Zschocke Methylmalonyl-CoA mutase (MCM) apoenzyme deficiency is a rare metabolic disease that may result in distinct biochemical phenotypes of methylmalonic acidemia (MMA), namely mut1 and mut-. We analyzed a cohort of 40 MCM-deficient patients with MMA affected by eithe