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Gene Review

HIBADH  -  3-hydroxyisobutyrate dehydrogenase

Homo sapiens

Synonyms: 3-hydroxyisobutyrate dehydrogenase, mitochondrial, NS5ATP1
 
 
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Disease relevance of HIBADH

 

High impact information on HIBADH

References

  1. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. Loupatty, F.J., van der Steen, A., Ijlst, L., Ruiter, J.P., Ofman, R., Baumgartner, M.R., Ballhausen, D., Yamaguchi, S., Duran, M., Wanders, R.J. Mol. Genet. Metab. (2006) [Pubmed]
  2. Contribution of 3-hydroxyisobutyrate to the measurement of 3-hydroxybutyrate in human plasma: comparison of enzymatic and gas-liquid chromatography-mass spectrometry assays in normal and in diabetic subjects. Avogaro, A., Bier, D.M. J. Lipid Res. (1989) [Pubmed]
 
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