|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Given its convenient oral regimen and the limited therapeutic options available, migalastat is an important treatment option for Fabry disease in patients with migalastat-amenable GLA mutations.
|
30875019 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease.
|
30988410 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we have used patient-derived induced pluripotent stem cell (iPSC) and gene-editing technology to study the cardiac-related molecular and functional consequences of mutations in GLA causing the lysosomal storage disorder Fabry disease (FD), for which heart dysfunction is a major cause of mortality.
|
31378672 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) is a hereditary X-linked metabolic storage disorder characterized by deficient or absent lysosomal α-galactosidase A (α-Gal A) activity.
|
30609268 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel GLA missense mutation, c.280T>C (Cys94Arg), was found in a Chinese family with predominant renal manifestations of FD.
|
31321922 |
2019 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fabry disease (FD) is a lysosomal storage disorder characterized by impaired alpha-galactosidase A (α-Gal A) enzyme activity due to mutations in the GLA gene.
|
30990584 |
2019 |
|
Fabry Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We aimed to clarify the utility of combined measurement of plasma globotriaosylsphingosine (lyso-Gb3) concentration and α-galactosidase A activity (α-GAL) as a primary screening of FD in unexplained LVH patients.Methods and Results:Between 2014 and 2016, both lyso-Gb3 and α-GAL were measured in 277 consecutive patients (male 215, female 62, age 25-79 years) with left ventricular wall thickness >12 mm on echocardiogram: 5 patients (1.8%) screened positive (2 (0.7%) showed high lyso-Gb3 and 4 (1.4%) had low α-GAL levels).
|
31308318 |
2019 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fabry disease-specific therapy necessitates early diagnosis; however, the optimal screening strategy and cost efficacy of routine α-galactosidase A (α-gal A) vs comprehensive galactosidase alpha gene (GLA) testing remain poorly understood.
|
30611458 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) is a rare X-linked α-galactosidase A (<i>GLA</i>) deficiency, resulting in progressive lysosomal accumulation of globotriaosylceramide (Gb3) in a variety of cell types.
|
30853972 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) is an X-linked monogenic disorder caused by mutations in the GLA gene which leads to a deficiency of the functionally active lysosomal α-galactosidase A enzyme.
|
30762167 |
2019 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
We conclude that Fabry rats recapitulate important kidney and heart phenotypes experienced by patients and can be further used to study disease mechanisms and test therapies.-Miller, J. J., Aoki, K., Mascari, C. A., Beltrame, A. K., Sokumbi, O., North, P. E., Tiemeyer, M., Kriegel, A. J., Dahms, N. M., α-Galactosidase A-deficient rats accumulate glycosphingolipids and develop cardiorenal phenotypes of Fabry disease.
|
29979634 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The study of Lyso-Gb3 concentrations in DBS was lower than 3.5 ng/mL, allowing us to discharge FD in all subjects and to consider these GLA variants like non pathologic.
|
31715500 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) is caused by mutations in the <i>GLA</i> gene that encodes lysosomal α-galactosidase-A (α-gal-A).
|
31491876 |
2019 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fabry disease is an X-linked lysosomal storage disorder due to a deficiency of the α-galactosidase A enzyme.
|
31446751 |
2019 |
|
Fabry Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Fabry disease (FD) is a rare and underdiagnosed X-linked disorder resulting from the deficient activity of the lysosomal hydrolase α-galactosidase A, which leads to storage of complex glycosphingolipids inside of lysosomes in critical organs and tissues, impairing their functions and consequently resulting in a progressive multisystem disease.
|
31611903 |
2019 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
We demonstrate distinct circulation time and organ distribution of selected glycoforms of α-galactosidase A in a Fabry disease mouse model, and find that an α2-3 sialylated glycoform designed to eliminate uptake by the mannose 6-phosphate and mannose receptors exhibits improved circulation time and targeting to hard-to-reach organs such as heart.
|
31040271 |
2019 |
|
Fabry Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
It is well documented that alpha-galactosidase A (GLA) enzyme activity deficiency causes globotriaosylceramide (Gb3) accumulation, which plays a crucial role in the etiology of FD.
|
30965672 |
2019 |
|
Fabry Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Fabry disease is a rare X-linked lysosomal storage disorder resulting from deficient activity of α-galactosidase A, leading to the accumulation of glycosphingolipids such as globotriaosylsphingosine (lyso-Gb3).
|
31427622 |
2019 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase-A, which results in accumulation of the glycosphingolipid (GSL) globotriaosylceramide (Gb<sub>3</sub>).
|
31319156 |
2019 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Pegunigalsidase alfa, a novel PEGylated, covalently crosslinked form of α-galactosidase A developed as enzyme replacement therapy (ERT) for Fabry disease (FD), was designed to increase plasma half-life and reduce immunogenicity, thereby enhancing efficacy compared with available products.
|
30834538 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) is a rare, X-linked, inherited lysosomal disease caused by absent or reduced α-galactosidase A activity.
|
31801581 |
2019 |
|
Fabry Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In the above article, we noticed that one female patient in the positive group (plasma lyso-Gb3 7.6 ng/ml, α-galactosidase A activity 4.9 nmol/h/ml) who presented at the neurology clinic was already diagnosed with Fabry disease before the current study.
|
30190610 |
2019 |
|
Fabry Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Fabry disease is an X-linked recessive disorder caused by deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A).
|
30804731 |
2019 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fabry disease (FD) is a genetic disorder caused by a deficiency in the enzyme alpha-galactosidase A, leading to an accumulation of glycosphingolipids in tissues across the body.
|
31151481 |
2019 |
|
Fabry Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase (Gal) A gene (GLA; MIM:300644).
|
31213654 |
2019 |