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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
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A group of genetic disorders characterized by elevated urinary concentrations of 2-hydroxyglutaric acid. Three different types have been identified…
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National Institutes of Health
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Related topics
Related topics
11 relations
Autosomal recessive inheritance
Cerebellar Hypoplasia
Dyspnea
Encephalopathies
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Broader (1)
Brain Diseases, Metabolic, Inborn
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
[Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria].
Y. Deng
,
G. Tang
,
+7 authors
Chengrong Li
Zhonghua yi xue yi chuan xue za zhi = Zhonghua…
2016
Corpus ID: 38208914
OBJECTIVE To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria. METHODS Exons of 3 candidate…
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2013
2013
Contribution of brain MRI in a patient diagnosed with 2-hydroxyglutaric aciduria
S. Işıkay
,
K. Carman
BMJ Case Reports
2013
Corpus ID: 45722297
l-2-Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid metabolism. Clinical…
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2013
2013
2-hydroxyglutaric aciduria. possible implications for human dehydrogenase of Escherichia coli K-12 and its of the serA-encoded 3-phosphoglycerate A novel alpha-ketoglutarate reductase activity
G. Zhao
,
M. Winkler
2013
Corpus ID: 18764117
2010
2010
Exonic mutations in the L2HGDH gene in Staffordshire bull terriers
Andrea D. Short
,
C. Mellersh
,
+4 authors
W. Ollier
The Veterinary Record
2010
Corpus ID: 33857748
2-HYDROXYGLUTARIC aciduria (2-HGA) represents a group of metabolic disorders that cause progressive damage to the brain. These…
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1993
1993
d-2-Hydroxyglutaric aciduria in a newborn with neurological abnormalities: A new neurometabolic disorder?
K. Gibson
,
W. Craigen
,
G. Herman
,
C. Jakobs
Journal of Inherited Metabolic Disease
1993
Corpus ID: 31099476
2-Hydroxyglutaric (2-HG) acid is a normal component of human urine (4-36 mmol/mol creatinine) and occurs in D and L…
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Review
1991
Review
1991
[N-acetylaspartic aciduria. Clinical, biological and physiopathological study].
C. Gay
,
P. Divry
,
V. Macabeo
,
R. Gilly
Archives francaises de pediatrie
1991
Corpus ID: 30203022
Two cases of N-acetylaspartic aciduria in siblings are described and compared to the 18 cases already reported. The disease…
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1991
1991
Canavan disease: value of N-acetylaspartic aciduria?
I. D. Coo
,
J. Bakkeren
,
F. Gabreëls
Neuropediatrics
1991
Corpus ID: 35349516
1985
1985
α-Aminoadipic andα-ketoadipic aciduria: Detection of a new case by a screening program using two-dimensional thin layer chromatography of amino acids
C. Vianey-Liaud
,
P. Divry
,
J. Cotte
,
G. Teyssier
Journal of Inherited Metabolic Disease
1985
Corpus ID: 35407047
α-Aminoadipic acid and α-ketoadipic acid are intermediates of lysine catabolism; they are synthetized mainly via the saccharopine…
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1979
1979
Measurement of 4-hydroxyphenylacetic aciduria as a screening test for small-bowel disease.
R. Chalmers
,
H. Valman
,
M. Liberman
Clinical Chemistry
1979
Corpus ID: 11311799
We evaluted measurement of urinary 4-hydroxyphenyl acetic acid as a potential screening method for small-bowel disease and…
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1977
1977
A Comprehensive Screening Method for Detecting Organic Acidurias and other Metabolic Diseases in Acutely Sick Infants and Children
R. Chalmers
,
R. Watts
,
A. M. Lawson
Annals of Clinical Biochemistry
1977
Corpus ID: 41889632
A protocol is described for the comprehensive screening of acutely ill neonates and infants for inherited metabolic diseases…
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