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Glutaric aciduria

Known as: Glutaricaciduria, aciduria glutaric 
An increased concentration of glutaric acid in the urine. [HPO:gcarletti]
National Institutes of Health

Papers overview

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2012
2012
The cerebral formation and entrapment of neurotoxic dicarboxylic metabolites (glutaryl-CoA, glutaric and 3-hydroxyglutaric acid… Expand
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Highly Cited
2009
Highly Cited
2009
In glutaric aciduria type I, an autosomal recessive disease of mitochondrial lysine, hydroxylysine and tryptophan catabolism… 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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Highly Cited
2004
Highly Cited
2004
All 28 patients, 13 females and 15 males, with glutaric aciduria type 1 diagnosed between 1975 and 2001 in Denmark, Finland… Expand
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Review
2003
Review
2003
Megalencephalic leukoencephalopathy with subcortical cysts is one of the newly described white-matter disorders for which… Expand
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1999
1999
Subdural and retinal haemorrhages in young children without an appropriate history of trauma strongly suggest non-accidental… Expand
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Highly Cited
1999
Highly Cited
1999
Glutaric aciduria type I (GA I) is a recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH). The… Expand
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1987
1987
We present four patients, two pairs of siblings, with glutaric aciduria type I (GA I). All four had undetectable glutaryl-CoA… Expand
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1983
1983
  • Edith Christensen
  • Clinica chimica acta; international journal of…
  • 1983
  • Corpus ID: 6613017
Glutaric aciduria type I due to glutaryl-CoA dehydrogenase deficiency was first described by Goodman et al in 1975 [l]. Since… Expand
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Highly Cited
1980
Highly Cited
1980
Two infants have been studied with glutaric aciduria Type II. The clinical presentation was of an overwhelming illness very early… Expand
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