×
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
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.
27672653 2019
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.
27672653 2019
×
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
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
29665094 2018
×
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
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
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
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
GeneticVariation
CLINVAR
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.
28302372 2017
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.
28302372 2017
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I.
28794906 2017
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
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
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.
28438223 2017
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria.
28781846 2017
×
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
CausalMutation
CLINVAR
Clinical application of whole-exome sequencing across clinical indications.
26633542 2016
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
27629047 2016
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
27243974 2016
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
26071121 2016
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review.
27351573 2016
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
CausalMutation
CLINVAR
Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
26656312 2016
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
26071121 2016
×
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
Glutaric aciduria, type 1
1.000
GeneticVariation
CLINVAR
Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
26656312 2016