|
Fabry Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.
|
23306324 |
2013 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
For comparison, the processing and stability of alpha-galactosidase A were examined in fibroblasts from five unrelated patients with Fabry disease, which is caused by deficient alpha-galactosidase A activity.
|
3029062 |
1987 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Rats deficient in α-galactosidase A develop ocular manifestations of Fabry disease.
|
31253878 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) has an extensive phenotypic expression associated with GLA gene variants.
|
31566927 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To assess the molecular heterogeneity, define genotype/phenotype correlations, and for precise carrier identification, the nature of the molecular lesions in the alpha-Gal A gene was determined in 40 unrelated families with Fabry disease.
|
12428061 |
2002 |
|
Fabry Disease
|
1.000 |
CausalMutation
|
disease |
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 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene.
|
30130681 |
2018 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequencing and characterization of the porcine α-galactosidase A gene: towards the generation of a porcine model for Fabry disease.
|
20131008 |
2011 |
|
Fabry Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
As a dominant selectable marker, the MDR1 gene was co-expressed with alpha-galactosidase A for the model of gene therapy of Fabry disease.
|
9209454 |
1997 |
|
Fabry Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.
|
23109060 |
2013 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta.
|
28592315 |
2017 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
|
7599642 |
1995 |
|
Fabry Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cardiovascular manifestations in Fabry disease: a clinical and echocardiographic study.
|
17452128 |
2007 |
|
Fabry Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.
|
12920095 |
2003 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
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 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
The α-galactosidase A deficient mouse proved to be an adequate model for Fabry disease, as it shares many symptoms including altered temperature sensitivity and pain perception.
|
29422837 |
2017 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A (GLA) gene causing deficiency of α-galactosidase A which results in progressive glycosphingolipid accumulation, especially globotriaosylceramide (Gb3), in body liquids and lysosomes.
|
28728877 |
2018 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The white blood cell α-gal activity was very low, and genetic analysis revealed a GLA gene variant (M296I), which is known as a late-onset genetic mutation of FD.
|
31847900 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
|
29649853 |
2018 |
|
Fabry Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Early occurrence of small-fibre neuropathy (SFN) is a common feature of Fabry disease (FD) - an X-linked storage disorder caused by reduced activity of the α-galactosidase A (α-GAL).
|
20860754 |
2011 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fabry disease is an X-linked inherited loss of alpha-galactosidase A (alpha-Gal A).
|
16033856 |
2005 |
|
Fabry Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.
|
28082092 |
2017 |
|
Fabry Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Pharmacological chaperone therapy for Fabry disease.
|
22241068 |
2012 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic GLA mutations cause Fabry disease, a vascular endothelial glycosphingolipid storage disease typically presenting with a symptom complex of renal, cardiac, and cerebrovascular manifestations.
|
23393592 |
2013 |
|
Fabry Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
|
25407461 |
2015 |