Results 1 to 10 of about 9,057,553 (322)

Fabry disease exacerbates renal interstitial fibrosis after unilateral ureteral obstruction via impaired autophagy and enhanced apoptosis [PDF]

Kidney Research and Clinical Practice, 2021
Background Fabry disease is a rare X-linked genetic lysosomal disorder caused by mutations in the GLA gene encoding alpha-galactosidase A. Despite some data showing that profibrotic and proinflammatory cytokines and oxidative stress could be involved in ...
Sungjin Chung, Mina Son, Yura Chae, Songhee Oh, Eun Sil Koh, Yong Kyun Kim, Seok Joon Shin, Cheol Whee Park, Sung-Chul Jung, Ho-Shik Kim   +9 more
doaj   +2 more sources

The relationship between multiple plasma biomarker levels and renal disease activity in Fabry disease [PDF]

BMC Nephrology
Background Fabry disease is a rare lysosomal storage disorder. The genotypic and phenotypic heterogeneity of the disease complicates the prediction of disease activity.
Seyda Gul Ozcan, Necmi Eren, Mevlut Tamer Dincer, Zeynep Atli, Murat Bolayirli, Metin Ergul, Hakan Ozer, Kultigin Turkmen, Sinan Trabulus, Nurhan Seyahi   +9 more
doaj   +2 more sources

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. [PDF]

Molecular Genetics & Genomic Medicine, 2018
BackgroundThe p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease.MethodsTo expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males ...
Brand, Eva, Burlina, Alessandro, Cecchi, Franco, Garman, Scott C, Germain, Dominique P, Jovanovic, Ana, Kempf, Judy, Laney, Dawn A, Linhart, Aleš, Maródi, László, Nicholls, Kathy, Ortiz, Alberto, Pieruzzi, Federico, Shankar, Suma P, Waldek, Stephen, Wanner, Christoph   +15 more
core   +2 more sources

Bilateral avascular necrosis: A rare complication of Fabry disease [PDF]

Molecular Genetics and Metabolism Reports
Fabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, which encodes for the α–galactosidase A enzyme responsible for degrading globotriaosylceramide.
Candela Romano, Joel Wells, Nicholas Stanzione, Virginia Kimonis   +3 more
doaj   +2 more sources

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. [PDF]

, 2015
Trial designThis analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.MethodsMales
An Haack, Kristina, Bichet, Daniel G, Bénichou, Bernard, Clarke, Lorne A, Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, Hopkin, Robert J, Mauer, Michael, Najafian, Behzad, Ramaswami, Uma, Scott, C Ronald, Shankar, Suma P, Thurberg, Beth L, Tylki-Szymańska, Anna, Tøndel, Camilla, Wijburg, Frits A   +17 more
core   +18 more sources

Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations

Genes, 2023
Fabry Disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene on the X chromosome, leading to a deficiency in α-galactosidase A (AGAL) enzyme activity.
Raafiah Izhar, Margherita Borriello, Antonella La Russa, Rossella Di Paola, Ananya De, Giovambattista Capasso, D. Ingrosso, Alessandra F. Perna, M. Simeoni   +8 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

Impact of enzyme replacement therapy and migalastat on left atrial strain and cardiomyopathy in patients with Fabry disease

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, Stefan-Martin Brand, Thomas Duning, Thomas Duning, Antje Schmidt-Pogoda, Jürgen Sindermann, Malte Lenders, Eva Brand   +7 more
doaj   +1 more source

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, A. Jovanović, K. Herrmann, I. Vardarli   +3 more
semanticscholar   +1 more source

Humoral Immune Response to SARS-CoV-2 Vaccination after a Booster Vaccine Dose in Two Kidney Transplant Recipients with Fabry Disease and Variable Secondary Immunosuppressive Regimens

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, Oana R. Ailioaie, Nadine Benhamouda, Eric Tartour, Dominique P. Germain   +4 more
doaj   +1 more source