×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
27397597 2016
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
25255367 2015
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.
25762492 2015
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.
26593172 2015
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
25590979 2015
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.
25256449 2015
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
25590979 2015
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.
25256449 2015
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.
25762492 2015
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
25255367 2015
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Molecular determination of glutaric aciduria type I in individuals from southwest Iran.
25204480 2014
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.
24332224 2014
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
The purpose of this study was to identify the mutations in the glutaryl-CoA dehydrogenase gene (GCDH) in ten Cypriot patients with Glutaric aciduria type I (GAI ).
24973495 2014
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.
24332224 2014
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
The purpose of this study was to identify the mutations in the glutaryl-CoA dehydrogenase gene (GCDH) in ten Cypriot patients with Glutaric aciduria type I (GAI ).
24973495 2014
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Glutaric Aciduria type I and acute renal failure - Coincidence or causality?
27896087 2014
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Molecular determination of glutaric aciduria type I in individuals from southwest Iran.
25204480 2014
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I.
23884036 2013
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.
23395213 2013
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Promising outcomes in glutaric aciduria type I patients detected by newborn screening.
23104440 2013
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Promising outcomes in glutaric aciduria type I patients detected by newborn screening.
23104440 2013
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
21912879 2012
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
[Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I].
23225040 2012
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
22728054 2012
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
21912879 2012