Results 11 to 20 of about 9,220,596 (237)
Chaperone Therapy in Fabry Disease
International Journal of Molecular Sciences, 2022 Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene. Reduced activity or deficiency of alpha-galactosidase A (AGAL) leads to escalating storage of intracellular ...
F. Weidemann +3 more
semanticscholar +1 more source
Vaccines, 2021 The urgent need to fight the COVID-19 pandemic has accelerated the development of vaccines against SARS-CoV-2 and approval processes. Initial analysis of two-dose regimens with mRNA vaccines reported up to 95% efficacy against the original strain of the ...
Lavinia Bernea +4 more
doaj +1 more source
Fabry disease – a multisystemic disease with gastrointestinal manifestations
Gut microbes, 2022 Nonspecific gastrointestinal (GI) symptoms, such as postprandial cramping pain, diarrhea, nausea and vomiting are typical symptoms for irritable bowel syndrome or inflammatory bowel disease, but may also be the first symptoms of Fabry disease (FD).
Malte Lenders, E. Brand
semanticscholar +1 more source
Fabry disease: Mechanism and therapeutics strategies
Frontiers in Pharmacology, 2022 Fabry disease is a monogenic disease characterized by a deficiency or loss of the α-galactosidase A (GLA). The resulting impairment in lysosomal GLA enzymatic activity leads to the pathogenic accumulation of enzymatic substrate and, consequently, the ...
Xi Li +5 more
semanticscholar +1 more source
Fabry Disease: The Current Treatment Landscape
Drugs, 2021 Fabry disease (FD) is a rare X-linked lysosomal storage disease based on a deficiency of α-galactosidase A (AGAL) caused by mutations in the α-galactosidase A gene (GLA). The lysosomal accumulation of glycosphingolipids, especially globotriaosylceramide (
Malte Lenders, E. Brand
semanticscholar +1 more source
Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions
Biomolecules, 2021 Fabry disease (FD) is a lysosomal storage disorder (LSD) characterized by the deficiency of α-galactosidase A (α-GalA) and the consequent accumulation of toxic metabolites such as globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3).
Ken Kok +5 more
semanticscholar +1 more source
No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy. [PDF]
PLoS ONE, 2016 Screening for Fabry disease in patients with small fiber neuropathy has been suggested, especially since Fabry disease is potentially treatable. However, the diagnostic yield of testing for Fabry disease in isolated small fiber neuropathy patients has ...
Bianca T A de Greef +7 more
doaj +1 more source
Fabry Disease and the Heart: A Comprehensive Review
International Journal of Molecular Sciences, 2021 Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and consequent accumulation of glycosphingolipids in body fluids and lysosomes of ...
O. Azevedo +6 more
semanticscholar +1 more source
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease
Clinical Genetics, 2021 Fabry disease (FD) is an X‐linked genetic disease due to pathogenic variants in GLA. The phenotype varies depending on the GLA variant, alpha‐galactosidase residual activity, patient's age and gender and, for females, X chromosome inactivation. Over 1000
D. Germain +8 more
semanticscholar +1 more source
Canadian Journal of Kidney Health and Disease, 2023 Background: Fabry disease is a rare disorder caused by the deficient activity of α-galactosidase A (GLA) that often leads to organ damage. Fabry disease can be treated with enzyme replacement or pharmacological therapy, but due to its rarity and ...
Reid H. Whitlock +7 more
doaj +1 more source