Results 21 to 30 of about 1,106 (130)
Novel GLA variant in Fabry cardiomyopathy: evidence of pathogenicity and amenability to migalastat [PDF]
Open HeartBackground Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene and commonly involves the heart.
Lian Wang +7 more
doaj +2 more sources
Current treatment status of fabry disease in South Korea: a longitudinal National health insurance service data-based study [PDF]
Orphanet Journal of Rare DiseasesBackground Fabry disease (FD) is an X-linked lysosomal storage disease caused by a mutation of the gene that encodes the α-galactosidase A enzyme. Treatment for FD is based on an enzyme replacement therapy (ERT), such as agalsidase-β, agalsidase-α, and ...
DoHyeon Lee +13 more
doaj +2 more sources
Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards [PDF]
Molecular Genetics and Metabolism ReportsBackground: Fabry disease (FD) is an X-linked lysosomal sphingolipidosis. It is caused by pathogenic variants in the GLA gene with a consequent deficiency of the enzyme α-galactosidase A, resulting in the pathological accumulation of glycolipids - mainly
Roberto Giugliani +17 more
doaj +2 more sources
Phenotypic variability and the gender paradox in the R363C variant of Fabry disease [PDF]
JIMD ReportsFabry disease is an X‐linked lysosomal disease caused by variants in the GLA gene. Although Fabry disease is X‐linked, GLA gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X‐linked recessive ...
Alison C. Leslie +6 more
doaj +2 more sources
Status and frontiers of Fabre disease [PDF]
Orphanet Journal of Rare DiseasesFabry disease is characterized by an X sex chromosome gene mutation caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide and globotriaosylsphingosine in various organs, which induces end-organ lesions.
Wei Chu +7 more
doaj +2 more sources
Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort. [PDF]
, 2019 Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. The progressive accumulation of globotriaosylceramide results in life-threatening complications, including renal, cardiac, and ...
Krayenbuehl, Pierre-Alexandre +11 more
core +6 more sources
Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort. [PDF]
Eur J NeurolA retrospective cohort study of 368 adults with Fabry disease in the UK analysed time to stroke over approximately 10 years. It found that concomitant autoimmune disease increased stroke risk, while eGFR > 90 mL/min and the p.N215S genotype were associated with lower risk.
Moreno-Martinez D +6 more
europepmc +2 more sources
Biomolecules, 2021 Fabry disease is an X-linked multisystemic disorder caused by the impairment of lysosomal α-Galactosidase A, which leads to the progressive accumulation of glycosphingolipids and to defective lysosomal metabolism.
Pedro Besada +10 more
doaj +1 more source
MIGALASTAT: A COVID-19 DRUG REPURPOSING STRATEGY
, 2022 Background: COVID-19 has already brought about billions of deaths everywhere in the world. In the present-day situation, repositioning of medicinal drugs can be taken into consideration as a unique healing alternative for COVID-19.
Veena Rv
core +1 more source
Cardiogenetics, 2022 Fabry disease (FD) is a multiorgan disease, which can potentially affect any organ or tissue, with the heart, kidneys, and central nervous system representing the major disease targets. FD can be suspected based on the presence of specific red flags, and
Marta Rubino +16 more
doaj +1 more source