𝔖 Bobbio Scriptorium
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HPLC assay for methylmalonyl–CoA epimerase

✍ Scribed by Thomas A. Bobik; Madeline E. Rasche

Book ID
105888011
Publisher
Springer
Year
2003
Tongue
English
Weight
207 KB
Volume
375
Category
Article
ISSN
1618-2650

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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