Disease: 2-methyl-3-hydroxybutyric aciduria
- 3-Ketothiolase deficiency
- 3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency
- A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation
- A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability
- A variant form of 2-methyl-3-hydroxybutyric and 2-methylacetoacetic aciduria
- Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene
- HSD10 disease in a female patient with juvenile onset parkinsonism
- Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism
- Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
- Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex
- Mutation analysis of a family with 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
- Studies on the urinary acidic metabolites from three patients with methylmalonic aciduria
- The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation
- The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria