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- Title
A novel ACAD8 mutation in asymptomatic patients with isobutyryl- CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.
- Authors
Yun, J.W.; Jo, K.I.; Woo, H.I.; Lee, S.‐Y.; Ki, C.‐S.; Kim, J.‐W.; Song, J.; Lee, D.H.; Lee, Y.‐W.; Park, H.‐D.
- Abstract
The article discusses a research concerning the effect of a novel acyl-CoA dehydrogenase 8 (ACAD8) mutation in asymptomatic patients. An overview on the risk of isobutyryl-CoA dehydrogenase (IBD) deficiency metabolic disorders in newborns, is provided. Also emphasized are the characteristic findings in acylcarnitines, organic acids and mutation analyses in the screening of newborns with IBD.
- Subjects
ACYL-CoA dehydrogenases; GENETIC mutation; DEHYDROGENASE kinetics; DEHYDROGENASES regulation; PATIENT selection; ETIOLOGY of diseases
- Publication
Clinical Genetics, 2015, Vol 87, Issue 2, p196
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.12350