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… (More)
National Institutes of Health

Papers overview

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2013
2013
Lactic acidosis is a buildup of lactic acid in the blood and tissues, which can be due to several inborn errors of metabolism as… (More)
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Highly Cited
2010
Highly Cited
2010
AIM To describe the phenotype and genotype of pyruvate dehydrogenase complex (PDHc) deficiency. METHOD Twenty-two participants… (More)
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Highly Cited
2009
Highly Cited
2009
Drought tolerance is a key trait for increasing and stabilizing barley productivity in dry areas worldwide. Identification of the… (More)
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Review
2008
Review
2008
The radical S-adenosylmethionine (SAM) superfamily currently comprises more than 2800 proteins with the amino acid sequence motif… (More)
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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… (More)
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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… (More)
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Highly Cited
1997
Highly Cited
1997
Inborn errors of the pyruvate dehydrogenase complex (PDC) are associated with lactic acidosis, neuroanatomic defects… (More)
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Review
1994
Review
1994
Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of… (More)
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Review
1989
Review
1989
The 2-oxo acid dehydrogenase complexes represent the classic examples of multienzyme complexes, a knowledge of whose structure… (More)
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1984
1984
We report a central hypoventilation syndrome (CHS) in a boy with pyruvate dehydrogenase complex (PDHC) deficiency. Dephos… (More)
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