Results 71 to 80 of about 744,838 (140)

Olipudase alfa IgE‐mediated anaphylaxis prevented by omalizumab and tailored desensitization in a child with acid sphingomyelinase deficiency

Pediatric Allergy and Immunology, Volume 37, Issue 5, May 2026.
Laura Fiori, Veronica Maria Tagi, Silvia Beretta, Chiara Montanari, Ilenia Pia Greco, Gianvincenzo Zuccotti, Enza D'Auria   +6 more
wiley   +1 more source

Renal and multisystem effectiveness of 3.9 years of migalastat in a global real‐world cohort: Results from the followME Fabry Pathfinders registry

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Fabry disease is a progressive, X‐linked lysosomal disorder caused by reduced or absent α‐galactosidase A activity due to GLA variants. The effects of migalastat were examined in a cohort of 125 Fabry patients with migalastat‐amenable GLA variants in the followME Pathfinders registry (EUPAS20599), an ongoing, prospective, patient‐focused ...
Derralynn A. Hughes, Gere Sunder‐Plassmann, Ana Jovanovic, Eva Brand, Michael L. West, Daniel G. Bichet, Antonio Pisani, Albina Nowak, Roser Torra, Aneal Khan, Olga Azevedo, Anna Lehman, Aleš Linhart, Jasmine Rutecki, Joseph D. Giuliano, Eva Krusinska, Peter Nordbeck   +16 more
wiley   +1 more source

FCA-2022-0047 - Spanish - Plain language summary of a study looking at heart muscle thickness and kidney function in women with Fabry disease who received agalsidase beta treatment

, 2023
What is Fabry disease & what is this study about? Fabry disease is a rare genetic condition that affects many different cells and organs in the body. People have Fabry disease when they inherit a GLA gene containing an error from one or both of their ...
Ulla Feldt-Rasmussen (317604), Alberto Ortiz (108398), Christoph Wanner (156898)   +2 more
core   +1 more source

Modeling the effect of enzyme replacement therapy on life-threatening complications in patients with Fabry disease

Фармакоэкономика, 2019
Fabry disease (FD) is a severe lysosome storage disease caused by congenital deficiency of the enzyme α-galactosidase A and characterized by the risk of renal failure combined with cardiovascular and CNS complications.
V. I. Ignatyeva, S. V. Moiseev, N. M. Bulanov, E. A. Karovajkina, A S. Moiseev   +4 more
doaj   +1 more source

A phase III, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Pegunigalsidase alfa, a PEGylated α‐galactosidase A enzyme replacement therapy (ERT) for Fabry disease, has a longer plasma half‐life than other ERTs administered intravenously every 2 weeks (E2W). BRIGHT (NCT03180840) was a phase III, open‐label study in adults with Fabry disease, previously treated with agalsidase alfa or beta E2W for ≥3 ...
Myrl Holida, Aleš Linhart, Antonio Pisani, Nicola Longo, François Eyskens, Ozlem Goker‐Alpan, Eric Wallace, Patrick Deegan, Camilla Tøndel, Ulla Feldt‐Rasmussen, Derralynn Hughes, Anat Sakov, Rossana Rocco, Einat Brill Almon, Sari Alon, Raul Chertkoff, David G. Warnock, Stephen Waldek, William R. Wilcox, John A. Bernat   +19 more
wiley   +1 more source

Plain language summary of a study looking at heart muscle thickness and kidney function in women with Fabry disease who received agalsidase beta treatment

, 2022
What is Fabry disease & what is this study about? Fabry disease is a rare genetic condition that affects many different cells and organs in the body. People have Fabry disease when they inherit a GLA gene containing an error from one or both of their
Wanner, Christoph, Feldt-Rasmussen, Ulla, Ortiz, Alberto   +2 more
core   +1 more source

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract Fabry 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 disease.
Alison C. Leslie, Jeanine Jarnes, Alia Ahmed, Sofia Shrestha, Jeffrey Wang, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

FCA-2022-0047 - French - Plain language summary of a study looking at heart muscle thickness and kidney function in women with Fabry disease who received agalsidase beta treatment

, 2023
What is Fabry disease & what is this study about? Fabry disease is a rare genetic condition that affects many different cells and organs in the body. People have Fabry disease when they inherit a GLA gene containing an error from one or both of their ...
Ulla Feldt-Rasmussen (317604), Alberto Ortiz (108398), Christoph Wanner (156898)   +2 more
core   +1 more source

[The treatment for Fabry disease: focus on agalsidase alpha and beta]

, 2021
: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the deficiency of the hydrolytic enzyme α-galactosidase A (α-Gal A), with consequent accumulation of globotrioasoylceramide in cells and tissues of the body, resulting in a ...
Pisani A, Nistico' R
core   +1 more source

La terapia enzimatica sostitutiva nella malattia di Fabry

Giornale di Clinica Nefrologia e Dialisi, 2019
Anderson-Fabry disease (FD) is a X-linked lysosomal storage disorder, which involves glycosphingolipids metabolism. Specific treatment for FD has been available in the last two decades, after the development and commercialization of recombinant human ...
Letizia Roggero, Sara Auricchio, Federico Pieruzzi   +2 more
doaj   +1 more source