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
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
Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing.
Zhuang DY et al.
Frontiers in Genetics, 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
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
Alfardan J et al.
Molecular Genetics and Metabolism, 2010
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
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.
Pedersen CB et al.
Pediatric Research, 2006
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