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Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12486
Abstract: A deficiency of 3‐hydroxyisobutyric acid dehydrogenase (HIBADH) has been recently identified as a cause of primary 3‐hydroxyisobutyric aciduria in two siblings; the only previously recognized primary cause had been a deficiency of methylmalonic semialdehyde dehydrogenase,…
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Keywords:
hydroxyisobutyric acid;
acid dehydrogenase;
acid;
clinical spectrum ... See more keywords
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Published in 2022 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2022.986022
Abstract: High levels of 2-hydroxyisobutyric acid (2-HIBA) were found in urines of patients with obesity and hepatic steatosis, suggesting a potential involvement of this metabolite in clinical conditions. The gut microbial origin of 2-HIBA was hypothesized,…
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Keywords:
hiba;
hydroxyisobutyric acid;
acid hiba;
caenorhabditis elegans ... See more keywords