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Pyruvate Dehydrogenase Complex Deficiency Disease

Known as: Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency, ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM, Deficiency, PDHC 
An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Mitochondrial dysfunction is a hallmark of metabolic diseases such as obesity, type 2 diabetes mellitus, neurodegenerative… Expand
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Review
2016
Review
2016
ObjectivesOur aime was to study the short- and long-term effects of ketogenic diet on the disease course and disease-related… Expand
Highly Cited
2014
Highly Cited
2014
Do the amino acid sequence identities of residues that make contact across protein interfaces covary during evolution? If so… Expand
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Highly Cited
2006
Highly Cited
2006
Our laboratory recently showed that six sessions of sprint interval training (SIT) over 2 wk increased muscle oxidative potential… Expand
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Highly Cited
2005
Highly Cited
2005
Background— Obesity is a risk factor for cardiovascular disease and is strongly associated with insulin resistance and type 2… Expand
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Review
1999
Review
1999
Monocarboxylates such as lactate and pyruvate play a central role in cellular metabolism and metabolic communication between… Expand
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Review
1997
Review
1997
Regulation of gene expression by nutrients is an important mechanism in the adaptation of mammals to their nutritional… Expand
Highly Cited
1996
Highly Cited
1996
We investigated the etiology of Leigh syndrome in 67 Australian cases from 56 pedigrees, 35 with a firm diagnosis and 32 with… Expand
Review
1994
Review
1994
Pyruvate dehydrogenase (PDH) deficiency is one of the most common of the defined genetic defects of mitochondrial energy… Expand
Highly Cited
1979
Highly Cited
1979
1. The synthesis and efflux of N-acetyl-l-aspartate from brain mitochondria of rats of different ages has been studied. 2. Brain… Expand