Glutaric aciduria, type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.
|
27672653 |
2019 |
Glutaric aciduria, type 1
|
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 |
Glutaric aciduria, type 1
|
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 |
Glutaric aciduria, type 1
|
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 |
Glutaric aciduria, type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
|
24973495 |
2014 |
Glutaric aciduria, type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
|
22728054 |
2012 |
Glutaric aciduria, type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.
|
21176883 |
2011 |
Glutaric aciduria, type 1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Use of guidelines improves the neurological outcome in glutaric aciduria type I.
|
21031586 |
2010 |
Glutaric aciduria, type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genetics, medicine, and the Plain people.
|
19630565 |
2009 |
Glutaric aciduria, type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Glutaric aciduria type I: outcome following detection by newborn screening.
|
18683078 |
2008 |
Glutaric aciduria, type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.
|
18926513 |
2008 |
Glutaric aciduria, type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
|
17478444 |
2007 |
Glutaric aciduria, type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
|
15505393 |
2004 |
Glutaric aciduria, type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genetic and biochemical study in a patient with glutaric acidemia type I.
|
15318278 |
2004 |
Glutaric aciduria, type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families.
|
12210585 |
2002 |
Glutaric aciduria, type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.
|
11058907 |
2000 |
Glutaric aciduria, type 1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.
|
11073722 |
2000 |
Glutaric aciduria, type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis in glutaric aciduria type I.
|
10699052 |
2000 |
Glutaric aciduria, type 1
|
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 |
Glutaric aciduria, type 1
|
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 |
Glutaric aciduria, type 1
|
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 |