Results 11 to 20 of about 9,399,207 (308)
Romanian Journal of Neurology, 2018 Fabry disease is a rare genetic disease involving a deficiency of an enzyme. A decrease in the enzyme activity leads to a selective suffering of specific anatomic and functional structures resulting in heteromorphic clinical signs that increase the ...
Ioana Simina Barac +4 more
doaj +2 more sources
Orphanet Journal of Rare Diseases, 2010 Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity.
Germain Dominique P
doaj +4 more sources
Anais Brasileiros de Dermatologia, 2009 A doença de Fabry é enfermidade de armazenamento lisossômico rara, ligada ao cromossomo-X, causada pela deficiência parcial ou completa da enzima alfagalactosidase A.
Paula Boggio +3 more
doaj +2 more sources
Frontiers in Cardiovascular Medicine, 2023 AimsCardiomyopathy in Fabry disease (FD) is a major determinant of morbidity and mortality. This study investigates the effects of FD-specific treatment using enzyme replacement therapy (ERT) and chaperone therapy on left atrial (LA) function using two ...
Christian Pogoda +7 more
doaj +1 more source
Newborn Screening for Fabry Disease: Current Status of Knowledge
International Journal of Neonatal Screening, 2023 Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease.
V. Gragnaniello +8 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: 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
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
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