HIBCH gene

Known as: HIBCH, HIBYL-CoA-H, BETA-HYDROXYISOBUTYRYL-COENZYME A HYDROLASE 
 

Topic mentions per year

Topic mentions per year

2012-2016
024620122016

Papers overview

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2016
2016
Methylmalonic acid (MMA) is a by-product of propionic acid metabolism through the vitamin B12 (cobalamin)-dependent enzyme… (More)
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2016
2016
BACKGROUND Recessive mutations in the 3-hydroxyisobutyryl-CoA hydrolase gene (HIBCH) are associated with a rare neurodegenerative… (More)
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2015
2015
3-Hydroxyisobutyryl-CoA hydrolase deficiency (HIBCHD) is a rare inborn error of the valine catabolic pathway associated with… (More)
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2015
2015
Leigh syndrome (LS) is a rare heterogeneous progressive neurodegenerative disorder usually presenting in infancy or early… (More)
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2015
2015
PURPOSE 3-Hydroxyisobutryl-CoA hydrolase (HIBCH) deficiency is a rare disorder of valine metabolism. We present a family with the… (More)
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2014
2014
HIBCH (3-hydroxyisobutyryl-CoA hydrolase) deficiency (MIM #250620) is a rare autosomal recessive inborn error of metabolism… (More)
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2014
2014
We present the case of a man with metastatic, castration-resistant prostate cancer, who had a complete prostate-specific antigen… (More)
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2014
2014
Two siblings with fatal Leigh disease had increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites that… (More)
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2013
2013
BACKGROUND Deficiency of 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) caused by HIBCH mutations is a rare cerebral organic aciduria… (More)
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2012
2012
Degeneration of synaptic and axonal compartments of neurons is an early event contributing to the pathogenesis of many… (More)
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