×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.
27672653
2019
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.
28438223
2017
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
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:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
GeneticVariation
disease
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:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
24973495
2014
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
22728054
2012
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.
21176883
2011
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
GeneticVariation
disease
CLINVAR
Use of guidelines improves the neurological outcome in glutaric aciduria type I.
21031586
2010
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Genetics, medicine, and the Plain people.
19630565
2009
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Glutaric aciduria type I: outcome following detection by newborn screening.
18683078
2008
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.
18926513
2008
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
17478444
2007
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
15505393
2004
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Genetic and biochemical study in a patient with glutaric acidemia type I.
15318278
2004
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families.
12210585
2002
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.
11058907
2000
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
GeneticVariation
disease
CLINVAR
Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.
11073722
2000
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Mutation analysis in glutaric aciduria type I.
10699052
2000
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
9600243
1998
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.
8900227
1996
×
Entrez Id:
256126
Gene Symbol:
SYCE2
SYCE2
0.100
CausalMutation
disease
CLINVAR
Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.
1951469
1991