×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.
27476540 2017
×
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
Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.
9266361 1997
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.
10066389 1999
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.
28062662 2017
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.
28389991 2017
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition.
10649503 2000
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Cerebral 1H MR spectroscopy revealing white matter NAA decreases in glutaric aciduria type I.
16488172 2006
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
8900228 1996
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
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
CausalMutation
CLINVAR
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
21228398 2011
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
21228398 2011
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Glutaric Acidemia Type 1: A Case of Infantile Stroke.
28411331 2018
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase.
10384381 1999
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases.
28352331 2017
×
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
GeneticVariation
CLINVAR
Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome.
18411069 2008
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.
11073722 2000
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Gene symbol: GCDH. Disease: Glutaricacidaemia I.
20960650 2008
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
10960496 2000
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Use of guidelines improves the neurological outcome in glutaric aciduria type I.
21031586 2010
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
10960496 2000
×
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
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
30570710 2019