|
Glutaric aciduria, type 1
|
1.000 |
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 |
|
Glutaric aciduria, type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The diagnosis of glutaric aciduria type I (GAI) was confirmed by the absence of the enzyme glutaryl-CoA dehydrogenase in fibroblast culture.
|
3069526 |
1988 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The adult bat, with its huge glutaric acid excretion and deficient liver glutaryl-CoA dehydrogenase, metabolically mimics patients affected with glutaric aciduria type I.
|
3182847 |
1988 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I.
|
7795610 |
1995 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I.
|
7795610 |
1995 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Glutaric aciduria type I (GA-I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a deficiency of glutaryl-CoA dehydrogenase.
|
8139602 |
1994 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenase locus.
|
8287562 |
1993 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We have cloned, sequenced, and expressed cDNAs encoding wild type human glutaryl-CoA dehydrogenase subunit, and have expressed a mutant enzyme found in a patient with glutaric acidemia type I.
|
8541831 |
1995 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We have cloned, sequenced, and expressed cDNAs encoding wild type human glutaryl-CoA dehydrogenase subunit, and have expressed a mutant enzyme found in a patient with glutaric acidemia type I.
|
8541831 |
1995 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We have cloned, sequenced, and expressed cDNAs encoding wild type human glutaryl-CoA dehydrogenase subunit, and have expressed a mutant enzyme found in a patient with glutaric acidemia type I.
|
8541831 |
1995 |
|
Glutaric aciduria, type 1
|
1.000 |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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
|
1.000 |
GeneticVariation
|
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
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
|
8900228 |
1996 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
|
8900228 |
1996 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
|
8900228 |
1996 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
|
8900228 |
1996 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
|
8900228 |
1996 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
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 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Several pathogenic mutations in GCDH have been reported to cause GAI.
|
9600243 |
1998 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Several pathogenic mutations in GCDH have been reported to cause GAI.
|
9600243 |
1998 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Several pathogenic mutations in GCDH have been reported to cause GAI.
|
9600243 |
1998 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Several pathogenic mutations in GCDH have been reported to cause GAI.
|
9600243 |
1998 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
|
9711871 |
1998 |