Associated Papers
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
Porta F et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.
Sass JO et al.
Molecular Genetics and Metabolism, 2008
Inborn errors of isoleucine degradation: a review.
Korman SH
Molecular Genetics and Metabolism, 2006
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
Madsen PP et al.
Human Genetics, 2006
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
Andresen BS et al.
American Journal of Human Genetics, 2000
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