|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease.
|
31634893 |
2020 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD [MIM:301500]) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene.
|
31770509 |
2020 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The patient presents the variant p.Asn34Asp in the GLA and had several manifestations of FD since adolescence.
|
31665721 |
2020 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of FD was confirmed with high globotriaosylsphingosine (Lyso-Gb3) levels and identification of GLA gene mutation.
|
31599343 |
2020 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in GLA.
|
31715450 |
2020 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fabry disease (FD) is a lysosomal storage disease, treatable by enzyme replacement therapy (ERT) that substitutes deficient α-galactosidase A (AGAL).
|
31587315 |
2020 |
|
Fabry Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Fabry disease (FD) is a hereditary disorder caused by a deficiency of α-galactosidase A enzyme activity.
|
30139698 |
2020 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Nonsense mutations are relatively frequent in the rare X-linked lysosomal α-galactosidase A (α-Gal) deficiency (Fabry disease; FD), but have been poorly investigated.
|
31613176 |
2020 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) is an X-linked lysosomal storage disorder that leads to cellular globotriaosylceramide (Gb3) accumulation due to mutations in the gene encoding α-galactosidase A. Trigger-induced acral burning pain is an early FD symptom of unknown pathophysiology.
|
31778662 |
2020 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study aims to demonstrate a founder effect of FD due to the GLA gene mutation c.337T>C (p.F113L) in the Portuguese region of Guimarães; and to characterize the clinical profile of this late-onset phenotype in a large cohort of genetically related adult patients, living in the same region.
|
31519519 |
2020 |
|
Fabry Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Sporadic Parkinson's disease (PD) patients have lower α-galactosidase A (α-GAL A) enzymatic activity and Fabry disease (FD) patients potentially carry an increased risk of PD.
|
31594250 |
2020 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency.
|
31449323 |
2020 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) is a genetic disorder caused by defective α-galactosidase-A enzyme due to mutations in the GLA gene.
|
31654629 |
2020 |
|
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 |
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 |
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 |
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 |
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 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from lack of alpha-galactosidase A (AGALA) activity in lysosomes.
|
30739116 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with Fabry disease (FD) and amenable mutations can be treated with the chaperone migalastat to restore endogenous α-galactosidase A (AGAL) activity.
|
31010832 |
2019 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Altered immune phenotypes in subjects with Fabry disease and responses to switching from agalsidase alfa to agalsidase beta.
|
30972193 |
2019 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA).
|
31169365 |
2019 |
|
Fabry Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Extracardiac features suggestive of AFD were present in 3 patients and all but 1 (female) had reduced α-galactosidase A activity.
|
31262606 |
2019 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
In conclusion, agalsidase alfa, 0.2 mg/kg every other week, was well tolerated and controlled the progression of symptoms (especially renal and cardiac) of Fabry disease in adults.
|
30803893 |
2019 |