×
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
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
These studies further define the molecular heterogeneity of the alpha-Gal A mutations in classical Fabry disease , permit precise heterozygote detection and prenatal diagnosis, and provide insights into the structural alterations of the mutant enzymes that cause the classic phenotype.
16595074 2006
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Prevalence of Fabry's disease within hemodialysis patients in Spain.
24365053 2014
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
20122163 2010
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease .
7504405 1993
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
7575533 1995
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
24386359 2013
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Genetic testing revealed mutations associated with Fabry disease in all four men with severely decreased AGAL activity resulting in a prevalence of 0.161% for the entire study population.
15100373 2004
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
25611685 2015