×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.
20110537
2010
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
These results illustrate the molecular heterogeneity of the lesions causing Fabry disease and emphasize the fact that CpG dinucleotides constitute important hot spots for mutation in the alpha-Gal A gene.
10916280
2000
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
21598360
2011
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.
11914245
2002
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.
26252393
2015
×
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
CLINVAR
[Early diagnosis of Fabry disease in children].
21946453
2011
×
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
CLINVAR
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
27560961
2016
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.
18154965
2007
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
25382311
2015
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.
29867742
2018
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Novel GLA gene mutations in two Chinese families with classic Fabry disease.
16215932
2005
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).
21972175
2012
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Anderson-Fabry disease in Austria.
12778775
2003
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Clinical evaluation suggested the diagnosis of Fabry disease , which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation.
16533976
2006
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Screening for pharmacological chaperones in Fabry disease.
17532296
2007
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
New mutations in the GLA gene in Brazilian families with Fabry disease.
22551898
2012
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
This DHPLC method should improve the rapidity and cost-effectiveness of alpha-Gal A mutation identification in affected males and carrier females for Fabry disease .
15712228
2005
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
12175777
2002
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies.
28649509
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.
23219219
2013
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
25468652
2015
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
27356758
2016