Glutaric aciduria, type 1

Known as: glutaric aciduria type i, GA I, GLUTARYL-CoA DEHYDROGENASE DEFICIENCY 
A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by… (More)
National Institutes of Health

Papers overview

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2011
2011
The inherited neurodegenerative disorder glutaric aciduria type 1 (GA1) results from mutations in the gene for the mitochondrial… (More)
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2006
2006
Glutaric aciduria type 1 (GA-1) is an inborn error of metabolism that results from a deficiency of glutaryl-CoA dehydrogenase… (More)
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Highly Cited
2000
Highly Cited
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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2000
2000
AIMS To study retrospectively the effects of treatment and the clinical outcome in 12 patients with glutaric aciduria type 1; and… (More)
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1994
1994
Two siblings presented with macrocephaly, psychomotor delay, and progressive dystonia. The initial diagnosis was of hydrocephalus… (More)
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1994
1994
We report clinical and neuropathological studies of 2 patients with glutaric aciduria type 1. A 10-month-old male with… (More)
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1993
1993
We were interested to read the recent report from Osaka et al. of a case of chronic subdural hematoma as an initial manifestation… (More)
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1986
1986
Glutaric aciduria type 1 (GA1; deficiency of glutaryl — CoA dehydrogenase) was diagnosed in a 6.5-month-old female infant… (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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Highly Cited
1976
Highly Cited
1976
A report is given on a hitherto undescribed metabolic disorder, characterized clinically by fatal neonatal acidosis, hypoglycemia… (More)
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