×
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
CausalMutation
CLINVAR
Conjunctival lymphangiectasia associated with classic Fabry disease.
28500230
2018
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.
29491734
2018
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Female Fabry disease patients and X-chromosome inactivation.
29079200
2018
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
29982630
2018
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.
28082092
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.
28756410
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy.
27554049
2017
×
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
CausalMutation
CLINVAR
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
27979989
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Because Fabry disease and primary erythromelalgia share similar symptoms, it is a good strategy for clinical physicians to perform genetic mutation screenings on both SCN9A and GLA genes in those patients with limb burning pain but without a clear inheritant pattern.
27211852
2017
×
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
CausalMutation
CLINVAR
Fabry disease due to D313Y and novel GLA mutations.
28988177
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.
28302345
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
27657681
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
29018006
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
27979989
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.
28377241
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Fabry Disease: An Uncommon Cause of Renal Failure.
28389313
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Mutational analysis of the GLA gene in Mexican families with Fabry disease.
28360401
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.
28430823
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
28672034
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
27657681
2017
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.
27083555
2016