Associated Papers
Novel ACAD8 variants identified in Isobutyryl-CoA dehydrogenase deficiency: challenges in phenotypic variability and management.
Tao Y et al.
Frontiers in Genetics, 2025
40330009 (PubMed )
Supplement: Table3.xlsx › Sheet1
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.
Feng J et al.
Orphanet Journal of Rare Diseases, 2021
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Eleftheriadou M et al.
Molecular Genetics & Genomic Medicine, 2021
A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.
Yun JW et al.
Clinical Genetics, 2015
Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience.
Pena L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
Oglesbee D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
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