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1. Comparative studies of Acyl-CoA dehydrogenases for monomethyl branched chain substrates in amino aci…
2. Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spe…
3. Alternative splicing in Acad8 resulting a mitochondrial defect and progressive hepatic steatosis in …
4. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydroge…
5. Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infant…

1. Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kaz…