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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… Expand
National Institutes of Health

Papers overview

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Highly Cited
2015
Highly Cited
2015
We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into… Expand
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Highly Cited
2012
Highly Cited
2012
Elevated urinary excretion of 3-methylglutaconic acid is considered rare in patients suspected of a metabolic disorder. In 3… Expand
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2010
2010
Objective: 3-Methylglutaconic aciduria type I is a rare inborn error of leucine catabolism. It is thought to present in childhood… Expand
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Highly Cited
2009
Highly Cited
2009
The heterogeneous group of 3-methylglutaconic aciduria type IV consists of patients with various organ involvement and mostly… Expand
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Highly Cited
2002
Highly Cited
2002
3-Methylglutaconic aciduria type I is an autosomal recessive disorder clinically characterized by various symptoms ranging from… Expand
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Highly Cited
2001
Highly Cited
2001
Type III 3-methylglutaconic aciduria (MGA) (MIM 258501) is a neuro-ophthalmologic syndrome that consists of early-onset bilateral… Expand
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Highly Cited
1992
Highly Cited
1992
ABSTRACT: We report the finding of mitochondrial ATP-synthase deficiency in a child with persistent 3-methylglutaconic aciduria… Expand
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Highly Cited
1992
Highly Cited
1992
3-Methylglutaconic aciduria was detected in four patients with Pearson syndrome, a multitissue disorder with hematologic… Expand
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Highly Cited
1991
Highly Cited
1991
Combined 3-methylglutaconic and 3-methylglutaric aciduria, one of the more common urinary organic acid abnormalities, has been… Expand
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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… Expand
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