Title : Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

Pub. Date : 2016 Jun

PMID : 27051597






1 Functional Relationships(s)
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1 Short-chain acyl-coA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation caused by ACADS gene alterations. Fatty Acids acyl-CoA dehydrogenase short chain Homo sapiens