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
Retrospective analysis of isobutyryl CoA dehydrogenase deficiency.
Zhang Z et al.
Minerva Pediatrics, 2024
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
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