Glutaric aciduria

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

Topic mentions per year

Topic mentions per year

1974-2018
0102019742018

Papers overview

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2010
2010
OBJECTIVE To evaluate the effect of treatment according to current evidence-based recommendations on the neurological outcome of… (More)
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2009
2009
In glutaric aciduria type I, an autosomal recessive disease of mitochondrial lysine, hydroxylysine and tryptophan catabolism… (More)
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2008
2008
Glutaric aciduria type I (GA I), a cerebral organic acidaemia with the potential for severe neurological consequences, can now be… (More)
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2006
2006
In the autosomal recessive human disease, glutaric aciduria type I (GA-1), glutaryl-CoA dehydrogenase (GCDH) deficiency disrupts… (More)
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Highly Cited
2003
Highly Cited
2003
Type I glutaric aciduria (GA1) results from mitochondrial matrix flavoprotein glutaryl-CoA dehydrogenase deficiency and is a… (More)
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2000
2000
Glutaric aciduria type 1 (GA1), resulting from the genetic deficiency of glutaryl-CoA dehydrogenase (GDH), is a relatively common… (More)
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1991
1991
We describe 14 patients with glutaric aciduria type 1 in five Canadian Indian kindreds living in Manitoba and northwest Ontario… (More)
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1980
1980
Two infants have been studied with glutaric aciduria Type II. The clinical presentation was of an overwhelming illness very early… (More)
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Highly Cited
1977
Highly Cited
1977
Biochemical and morphologic studies on a patient with glutaric aciduria are presented. Generalized aminoaciduria, alpha… (More)
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1976
1976
A report is given on a hitherto undescribed metabolic disorder, characterized clinically by fatal neonatal acidosis, hypoglycemia… (More)
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