|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.
|
28389991 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.
|
28302372 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.
|
28302372 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan.
|
27853989 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I.
|
28794906 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glutaric aciduria type I (GA-I) is a rare organic aciduria caused by the autosomal recessive inherited deficiency of glutaryl-CoA dehydrogenase (GCDH).
|
28545977 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.
|
28062662 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.
|
28438223 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Glutaric aciduria type 1 (GA1) is a rare metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase.
|
28143689 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
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 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.
|
27476540 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Higher Vulnerability of Menadione-Exposed Cortical Astrocytes of Glutaryl-CoA Dehydrogenase Deficient Mice to Oxidative Stress, Mitochondrial Dysfunction, and Cell Death: Implications for the Neurodegeneration in Glutaric Aciduria Type I.
|
27510504 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical application of whole-exome sequencing across clinical indications.
|
26633542 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glutaric acidemia type I (GA-I) is a rare metabolic disorder caused by mutation of the glutaryl- CoA dehydrogenase (GCDH) gene.
|
27351573 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
|
27629047 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
|
27243974 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
GCDH gene mutations were identified in all five probands with GA-I.
|
26656312 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
|
26071121 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
|
27397597 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review.
|
27351573 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
|
26656312 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
|
26071121 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
|
26656312 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
|
26071121 |
2016 |