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2-methyl-3-hydroxybutyrate

National Institutes of Health

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2-methyl-3-hydroxybutyric acid

Papers overview

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2014
2014
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (2M3HBD) deficiency (HSD10 disease) is a rare inborn error of metabolism, and <30… 
2011
2011
A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability
Hydroxysteroid (17beta) dehydrogenase 10 (HSD10) is a mitochondrial multifunctional enzyme encoded by the HSD17B10 gene. Missense… 
2008
2008
Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.
We report the biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. Organic… 
1996
1996
Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency.
1990
1990
Spectrophotometric enzymatic assay for S-3-hydroxyisobutyrate.
1988
1988
Formation and excretion of branched-chain acylcarnitines and branched-chain hydroxy acids in the perfused rat kidney.
Review
1987
Review
1987
Hyperketotic states due to inherited defects of ketolysis.
From the description of 2 unrelated patients with succinyl-CoA transferase (3-OAT) deficiency and 1 patient with acetoacetyl-CoA… 
1986
1986
Spin-echo and 2-dimensional 1H nuclear magnetic resonance studies on urinary metabolites from patients with 2-methylacetoacetyl CoA thiolase deficiency.
1979
1979
A VARIANT FORM OF 2‐METHYL‐3‐HYDROXYBUTYRIC AND 2‐METHYLACETOACETIC ACIDURIA
Abstract. A new case of assumed β‐ketothiolase deficiency, excreting 2‐methyl‐3‐hydroxybutyrate and tiglylglycine is described in… 
1979
1979
Propionic acidaemia presenting with pancytopaenia in infancy
A 2-month-old infant presented with vomiting, lethargy and pancytopaenia. She was found to have propionic acidaemia, and the… 
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