2-methyl-3-hydroxybutyric acid
National Institutes of Health
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HSD10 mitochondrial disease (HSD10MD), originally described as a deficiency of 2‐methyl‐3‐hydroxybutyryl‐CoA dehydrogenase (MHBD…
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) is a rare X-linked disorder caused by a mutation in the…
ABSTRACT: Cultured fibroblasts from 13 patients with organic aciduria suggesting 3-oxothiolase deficiency were studied by…
Two patients have been studied in whom the activity of the short chain-length-specific mitochondrial 3-ketothiolase was found to…
A boy of 6.5 years and his 36-year-old father were found to excrete elevated amounts of urinary 2-methyl-3-hydroxybutyric acid…
A number of previously unrecognized abnormal metabolites have been identified and quantitated in the urine of a patient with an…