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 |
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 |
Biomarker
|
disease |
BEFREE |
Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta.
|
28592315 |
2017 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A.
|
29558749 |
2018 |
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fabry disease (FD) is an X-linked disorder caused by deficiency of the enzyme alpha-galactosidase A, required for the degradation of globotriaosylceramide.
|
25345090 |
2014 |
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fabry disease (FD) is an inherited X-linked metabolic storage disorder triggered by abnormalities in the GLA gene at Xq22, which leads to a deficiency in α-galactosidase A and massive accumulation of intralysosomal glycosphingolipids.
|
28340691 |
2019 |
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Detailed examinations identified low α-galactosidase A activity and mutation of the α-Gal A gene, confirming a diagnosis of a renal variant phenotype of Fabry disease.
|
26971403 |
2016 |
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation.
|
15712198 |
2005 |
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that the missense mutation, p.R112C, in α-gal A gene ablates its activity and results in the development of FD with the renal damage.
|
23867994 |
2013 |
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment.
|
30473480 |
2019 |
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fabry disease is a complex, multisystemic and clinically heterogeneous disease with prominent urinary excretion of globotriaosylceramide (Gb(3)), the principal substrate of the deficient enzyme, alpha-galactosidase A.
|
19169844 |
2009 |
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
|
8863162 |
1996 |
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the α-galactosidase A enzyme.
|
30658922 |
2019 |