×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.
26652600 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.
26937405 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Pathology and function of conduction tissue in Fabry disease cardiomyopathy.
26047621 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Identification of mutations in Colombian patients affected with Fabry disease.
26297554 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
25611685 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
25596309 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
A Sporadic Case of Fabry Disease Involving Repeated Fever, Psychiatric Symptoms, Headache, and Ischemic Stroke in an Adult Japanese Woman.
26631895 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke.
25439755 2015
×
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
CausalMutation
CLINVAR
Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology.
25026990 2014
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Fabry disease: a new approach for the screening of females in high-risk groups.
24582695 2014
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Lysosome-associated protein 1 (LAMP-1) and lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease.
24334114 2014
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C.
24661928 2014
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.
23306324 2013
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.
23109060 2013
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
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
CausalMutation
CLINVAR
What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease.
23537685 2013
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.
23332617 2013
×
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
CausalMutation
CLINVAR
[Genetic and clinical study of three Chinese pedigrees with Fabry disease].
23568732 2013
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.
24236025 2013
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
[A boy with Fabry disease with the onset at the age of four].
23591357 2013
×
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
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
23935525 2013
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Left atrial enlargement and reduced atrial compliance occurs early in Fabry cardiomyopathy.
24094560 2013