Associated Papers
Structural insights into the pathogenicity of point mutations in human acyl-CoA dehydrogenase homotetramers.
Faraji H et al.
Journal of Biological Physics, 2024
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.
van Maldegem BT et al.
Neuropediatrics, 2011
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.
van Maldegem BT et al.
Pediatric Research, 2010
Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency.
van Maldegem BT et al.
The Journal of Pediatrics, 2010
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
Pedersen CB et al.
Human Genetics, 2008
[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated].
van Maldegem BT et al.
Nederlands Tijdschrift Voor Geneeskunde, 2008
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
van Maldegem BT et al.
Jama, 2006
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.
Bok LA et al.
Pediatrics, 2003
Select a paper to view details