3-Methylglutaconic Aciduria

Known as: 3-@METHYLGLUTACONIC ACIDURIA, 3mga (3-Methylglutaconic Aciduria) 
A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in… (More)
National Institutes of Health

Papers overview

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2012
2012
Elevated urinary excretion of 3-methylglutaconic acid is considered rare in patients suspected of a metabolic disorder. In 3… (More)
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2003
2003
The conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA is the only step in leucine catametabolism yet to be… (More)
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2002
2002
3-Methylglutaconic aciduria type I is an autosomal recessive disorder clinically characterized by various symptoms ranging from… (More)
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1999
1999
MRI in a young child with 3-methylglutaconic aciduria type 1 showed signal abnormalities in the basal ganglia which progressed… (More)
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1994
1994
Eleven new patients of Iraqi-Jewish origin with bilateral optic atrophy, neurological abnormalities ('optic atrophy plus… (More)
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1993
1993
Behr's syndrome consists of recessively inherited infantile optic atrophy, together with chronic neurological disturbances such… (More)
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1992
1992
We examined three patients from two families of Jewish-Iraqi origin who had progressive reduction of visual acuity and childhood… (More)
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1991
1991
Combined 3-methylglutaconic and 3-methylglutaric aciduria, one of the more common urinary organic acid abnormalities, has been… (More)
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1986
1986
We studied two patients with 3-methylglutaconic aciduria in order to determine the molecular defect. A new assay for 3… (More)
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1976
1976
1. A baby with severe metabolic acidosis was found to excrete abnormal amounts of 3-methylcrotonic acid, 3-methylglutaconic acid… (More)
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