×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease .
9452068 1998
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
LHGDN
[Gaucher's and Fabry's diseases: biochemical and genetic aspects].
12360742 2002
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
7596372 1995
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A .
10090526 1999
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles.
27431810 2016
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
Glycosphingolipids are known to play an important role in organ function at least in part from inherited lipid storage diseases such as Anderson-Fabry disease (Fabry's disease ; FD) that results from a mutation in alpha-galactosidase a (α-GLA or α-Gal A ), the enzyme responsible for catalyzing the removal of terminal galactose residues from glycosphingolipids.
21910086 2011
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
Thus, presence of CV in an individual with an uncertain diagnosis of FD indicates a pathogenic GLA variant, in the absence of medication that may induce CV; if CV is absent , FD cannot be excluded.
25677671 2016
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
Fabry disease (FD ) is an X-linked disease in which mutations of the GLA gene result in a deficiency of the enzyme α-galactosidase A and subsequent progressive, intralysosomal deposition of undegraded glycosphingolipid products, primarily globotriaosylceramide, in multiple organs.24645664 2014
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Pediatric Fabry disease.
15713906 2005
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
LHGDN
Structural characterization of mutant alpha-galactosidases causing Fabry disease.
18633574 2008
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
Subjects with GLA variants were grouped as classical, non-classical, uncertain or no FD , using strict phenotypical, biochemical and histological criteria.
25596309 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease .
8931708 1996
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
In adults with chronic kidney disease, an α-galactosidase A gene variant and an uncertain diagnosis of FD , a kidney biopsy with EM analysis should be performed to confirm or reject the diagnosis of FD nephropathy.
25187469 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
[Early diagnosis of Fabry disease in children].
21946453 2011
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
11889412 2002
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
Two cases of Fabry's disease : a hemizygote with a point mutation in the alpha-galactosidase A gene and his relative.
1328341 1992
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
We describe the molecular characterization of a novel, in-frame deletion that is located in exon 7 of the alpha-galactosidase A gene in a patient with Fabry's disease .
8834244 1996
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
Fabry disease (FD [MIM:301500]) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene.31770509 2020
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.
28682471 2017
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
A comparison of brain glucose metabolism in diabetes as measured by positron emission tomography or by arteriovenous techniques.
2393552 1990
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
This is the first detailed report of family members with Fabry disease due to a nonsense mutation (R220X ) in the alpha-Gal A gene.
15077869 2004
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
In men with classical Fabry disease (alpha-galactosidase A [alpha-Gal A ] deficiency), kidney failure occurs as early as the second decade of life.
14712441 2004
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
The patient presents the variant p.Asn34Asp in the GLA and had several manifestations of FD since adolescence.
31665721 2020
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
The diagnosis of FD was confirmed with high globotriaosylsphingosine (Lyso-Gb3) levels and identification of GLA gene mutation.
31599343 2020
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease .
2171331 1990