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GCDH gene

Known as: ACAD5, GCDH, GLUTARYL-CoA DEHYDROGENASE 
National Institutes of Health

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Glutaryl-CoA dehydrogenase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
بررسی مارکر پلی مورفیک rs9384 واقع در ناحیه ژنی GCDH مرتبط با بیماری گلوتاریک اسید یوریای نوع 1
:همدقم راتولگ ی ک سا ی د ی رو ی ا ی ( Glutaricaciduria ) عون 1 ( GA1… 
2017
2017
A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report -
Background: Glutaric aciduria type 1 (GA1) is a rare autosomal recessive neurometabolic disorder caused by mutations in the… 
Review
2016
Review
2016
Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases
The aim of the present study was to investigate the clinical, biochemical and genetic mutation characteristics of two cases of… 
2016
2016
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1
Glutaric aciduria type 1 (GA1) is an autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase… 
2016
2016
Higher Vulnerability of Menadione-Exposed Cortical Astrocytes of Glutaryl-CoA Dehydrogenase Deficient Mice to Oxidative Stress, Mitochondrial Dysfunction, and Cell Death: Implications for the…
Patients affected by glutaric aciduria type I (GA-I) show progressive cortical leukoencephalopathy whose pathogenesis is poorly… 
2014
2014
Glutaric Aciduria type I and acute renal failure — Coincidence or causality?
2014
2014
A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay
BackgroundWe report clinical and molecular cytogenetic characterization of a 2 year-old girl with 19p13.2p13.12 microdeletion and… 
2008
2008
Gene symbol: GCDH. Disease: Glutaricacidaemia I.
2003
2003
Case Report: Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: A novel mutation in a Turkish patient with glutaric aciduria type I
We report the first patient with the homozygous GCDH mutation M263V, displaying a high residual activity in fibroblasts of 30… 
1995
1995
Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene.
Glutaryl-CoA dehydrogenase (GCDH) is a nuclear-encoded, mitochondrial matrix enzyme. In humans, deficiency of GCDH leads to… 
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