glutarylcarnitine

 

Topic mentions per year

Topic mentions per year

1987-2017
02419872017

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2012
2012
BACKGROUND Metabolites such as creatinine and urea are established kidney function markers. High-throughput metabolomic studies… (More)
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2012
2012
Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism. Patients… (More)
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2011
2011
Glutaric aciduria type I, an inherited deficiency of glutaryl-coenzyme A dehydrogenase localized in the final common catabolic… (More)
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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… (More)
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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… (More)
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2004
2004
Summary: Malonylcarnitine and glutarylcarnitine are important diagnostic metabolites in the screening of dried blood spots by… (More)
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2003
2003
The neurometabolic disorder glutaryl-CoA dehydrogenase (GCDH) deficiency is biochemically characterised by an accumulation of the… (More)
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1996
1996
Acylcarnitines in amniotic fluid samples were analyzed for the prenatal diagnosis of propionic acidemia, methylmalonic aciduria… (More)
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1995
1995
Fatty acid oxidation (FAO) disorders represent a frequently misdiagnosed group of inborn errors of metabolism. Some patients die… (More)
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1987
1987
A technique for the identification of glutarylcarnitine in urine from a patient with glutaric aciduria type 1 is described. The… (More)
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