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Isobutyryl-CoA dehydrogenase deficiency

IsobutyrylglycinuriaIBGIBD deficiency
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Review Articles from PubMed

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Isobutyryl-CoA dehydrogenase deficiency" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Isobutyryl-CoA dehydrogenase deficiency" returned 1 free, full-text research articles. First 1 results:
Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency.
Last Updated: Mar 01, 2019

Isobutyryl-CoA dehydrogenase deficiency (IBDHD) is a rare autosomal recessive metabolic disorder related to valine catabolism and results from variants in ACAD8. Here, we present the clinical, biochemical, and genotypes of seven patients with IBDHD in China for the first time. Five ...

Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening.
Last Updated: Oct 18, 2016

Isobutyryl-CoA dehydrogenase (IBD) is an enzyme involved in the catabolism of the branched-chain amino acid valine. IBD deficiency is a very rare metabolic disorder, whereby only a few cases have been reported thus far. Recently, we observed a Korean newborn boy with elevated concentration ...

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