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Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency

✍ Scribed by M.C.Y. de Wit; I.F.M. de Coo; E. Verbeek; R. Schot; G.C. Schoonderwoerd; M. Duran; J.B.C. de Klerk; J.G.M. Huijmans; M.H. Lequin; F.W. Verheijen; G.M.S. Mancini


Book ID
116987743
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
266 KB
Volume
87
Category
Article
ISSN
1096-7192

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πŸ“œ SIMILAR VOLUMES


Malonyl CoA decarboxylase deficiency: C
✍ Sankar Surendran; Katherine A. Sacksteder; Stephen J. Gould; James G. Coldwell; πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 109 KB

## Abstract Malonyl CoA decarboxylase (MCD) is an enzyme involved in the metabolism of fatty acids synthesis. Based on reports of MCD deficiency, this enzyme is particular important in muscle and brain metabolism. Mutations in the MCD gene result in a deficiency of MCD activity, that lead to psycho