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Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency

✍ Scribed by SY Cho; H-D Park; Y-W Lee; C-S Ki; S-Y Lee; YB Sohn; SW Park; SH Kim; S Ji; SJ Kim; EW Choi; CH Kim; A-r Ko; K-H Paik; DH Lee; D-K Jin


Book ID
110889276
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
484 KB
Volume
81
Category
Article
ISSN
0009-9163

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3-Methylcrotonyl-CoA carboxylase deficie
✍ Maria Fernanda Dantas; Terttu Suormala; Ann Randolph; David Coelho; Brian Fowler πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 246 KB

Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder that appears to be the most frequent organic aciduria detected in tandem mass spectrometry (TMS)-based neonatal screening programs. The phenotype is variable, ranging from neonatal onset with severe neurolo