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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.
2020
2020
Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene
Glutaric aciduria type 1 (GA1, deficiency of glutaryl CoA dehydrogenase, glutaric acidemia type 1) (ICD-10 code: E72.3; MIM… 
2019
2019
Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico
2018
2018
[Detection of GCDH mutations in five Chinese patients with glutaric acidemia type I].
OBJECTIVE To detect potential mutations of GCDH gene in five patients with glutaric acidemia type I (GA-I). METHODS Genomic DNA… 
2017
2017
Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.
2016
2016
Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
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… 
2014
2014
Glutaric Aciduria type I and acute renal failure — Coincidence or causality?
2011
2011
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia
Dystonias are a clinically and genetically heterogeneous group of movement disorders characterized by involuntary, sustained… 
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… 
1994
1994
Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis.
Here, the authors report the mapping of GCDH to chromosome 19 by both in situ hybridization and human-hamster somatic cell hybrid… 
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