×
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
DGJ was capable of normalizing intracellular processing of mutant alpha-Gal A found in both classic (L166V) and variant (R301Q) Fabry disease patients.
17555407 2007
×
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
Cardiovascular manifestations in Fabry disease: a clinical and echocardiographic study.
17452128 2007
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.
12920095 2003
×
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
Pharmacological chaperone therapy for Fabry disease.
22241068 2012
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
25407461 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Diagnosing Fabry disease--delays and difficulties within discordant siblings.
23378663 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Fabry disease : 20 novel GLA mutations in 35 families.11668641 2001
×
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
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
CausalMutation
CLINVAR
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
19621417 2009
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.
19287194 2009
×
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
CausalMutation
CLINVAR
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
19387866 2009
×
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
A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
2152885 1990
×
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
CausalMutation
CLINVAR
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
11531969 2001
×
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
CausalMutation
CLINVAR
Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.
15091117 2004
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
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