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Combined D-2- and L-2-hydroxyglutaric aciduria

Known as: COMBINED D-2- AND L-2 -HYDROXYGLUTARIC ACIDURIA, L-2-Hydroxyglutaric Acidemia, 2-Hydroxyglutaricaciduria 
A group of genetic disorders characterized by elevated urinary concentrations of 2-hydroxyglutaric acid. Three different types have been identified… Expand
National Institutes of Health

Papers overview

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2018
2018
The 2-hydroxyglutaric aciduria (2-HGA) is a rare neurometabolic disorder that leads to the development of brain damage. It is… Expand
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Highly Cited
2006
Highly Cited
2006
A patient with protein-losing gastroenteropathy and egg allergy has been shown to have a previously unrecognized organic aciduria… Expand
2005
2005
Summaryl-2-Hydroxyglutaric aciduria is a rare organic aciduria associated with neurological and particularly cerebellar… Expand
Highly Cited
2002
Highly Cited
2002
The inherited neurometabolic disease d‐2‐hydroxyglutaric aciduria is complicated by progressive neurodegeneration of vulnerable… Expand
Highly Cited
2001
Highly Cited
2001
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is considered a rare inherited mitochondrial fatty acid oxidation disorder… Expand
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2000
2000
Two distinct disorders with elevated urinary excretion of 2-hydroxyglutaric acid are known: L-2-hydroxyglutaric aciduria and D-2… Expand
2000
2000
D-2-Hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria are two distinct inherited metabolic diseases. The accurate… Expand
Review
1999
Review
1999
D‐2‐Hydroxyglutaric aciduria has been observed in patients with extremely variable clinical symptoms, creating doubt about the… Expand
Highly Cited
1993
Highly Cited
1993
ABSTRACT: A stable-isotope dilution assay has been developed for quantitation of D- and L-2-hydroxyglutaric acids in physiologic… Expand
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1979
1979
We evaluted measurement of urinary 4-hydroxyphenyl acetic acid as a potential screening method for small-bowel disease and… Expand
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