Associated Papers
Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD).
Qian G et al.
Molecular Genetics and Metabolism Reports, 2026
Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases.
Neubauer J et al.
International Journal of Legal Medicine, 2021
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
Nochi Z et al.
Journal of Inherited Metabolic Disease, 2017
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.
Tonin R et al.
Bba Clinical, 2016
Mitochondrial fatty acid oxidation defects--remaining challenges.
Gregersen N et al.
Journal of Inherited Metabolic Disease, 2008
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