✦ LIBER ✦

Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe

✍ Scribed by C. Bender; A. Büchler; R. Baumgartner; D. S. Konecki; F. K. Trefz

Publisher: Springer
Year: 1994
Tongue: English
Weight: 92 KB
Volume: 153
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf01983416

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Atypical methylmalonic aciduria: frequen

Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)

✍ Abigail B. Gradinger; Caroline Bélair; Lisa C. Worgan; Carter D. Li; Jocelyne La 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 95 KB

Methylmalonic aciduria is known to result from defects in the enzyme methylmalonyl CoA mutase (MCM) (mut complementation group) and from defects in the synthesis of the MCM cofactor adenosylcobalamin (cblA, cblB, cblC, cblD, and cblF groups). Two patients who excrete methylmalonic acid have recently

A 13-bp deletion (1952 del 13) in the me

A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient

✍ Renaud-Laurian Touraine; Marie-Odile Rolland; Priscille Divry; Monique Mathieu; 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 284 KB

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