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glutarylcarnitine

 
National Institutes of Health

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Highly Cited
2012
Highly Cited
2012
BACKGROUND Metabolites such as creatinine and urea are established kidney function markers. High-throughput metabolomic studies… Expand
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Review
2011
Review
2011
Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically… Expand
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Highly Cited
2011
Highly Cited
2011
Glutaric aciduria type I, an inherited deficiency of glutaryl-coenzyme A dehydrogenase localized in the final common catabolic… Expand
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2008
2008
SummaryGlutaric aciduria type I (GA I), a cerebral organic acidaemia with the potential for severe neurological consequences, can… Expand
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Highly Cited
2006
Highly Cited
2006
SummaryGlutaryl-CoA dehydrogenase (GCDH) deficiency is an autosomal recessive disease with an estimated overall prevalence of 1… Expand
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Highly Cited
2006
Highly Cited
2006
Glutaric acid (GA) and 3-hydroxyglutaric acids (3-OH-GA) are key metabolites in glutaryl co-enzyme A dehydrogenase (GCDH… Expand
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2005
2005
Glutaric acidemia type I (GA-1) is a progressive neurodegenerative inborn error of metabolism that typically manifests acutely in… Expand
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2003
2003
The neurometabolic disorder glutaryl-CoA dehydrogenase (GCDH) deficiency is biochemically characterised by an accumulation of the… Expand
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Review
1998
Review
1998
Glutaric aciduria type I (GA1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic… Expand
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1995
1995
Fatty acid oxidation (FAO) disorders represent a frequently misdiagnosed group of inborn errors of metabolism. Some patients die… Expand
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