Results 31 to 40 of about 167,688 (127)

Treatment switch from agalsidase beta to agalsidase alfa for Fabry disease

, 2023
Die lysosomale Speichererkrankung Morbus Fabry wird X-chromosomal rezessiv vererbt und führt durch eine Mutation des α-Galactosidase A-Gens zu einer fehlerhaften Kodierung des α-Galactosidase A Enzyms.
Kreul, Lukas
core   +1 more source

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. [PDF]

PLoS ONE, 2015
Migalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder. The currently approved,
David G Warnock, Daniel G Bichet, Myrl Holida, Ozlem Goker-Alpan, Kathy Nicholls, Mark Thomas, Francois Eyskens, Suma Shankar, Mathews Adera, Sheela Sitaraman, Richie Khanna, John J Flanagan, Brandon A Wustman, Jay Barth, Carrolee Barlow, Kenneth J Valenzano, David J Lockhart, Pol Boudes, Franklin K Johnson   +18 more
doaj   +1 more source

Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis

Genetics and Molecular Biology, 2012
The specific treatment available for Fabry disease (FD) is enzyme replacement therapy (ERT) with agalsidase alfa or beta. A systematic review and meta-analysis was conducted to assess the efficacy and safety of ERT for FD.
Taciane Alegra, Filippo Vairo, Monica V. de Souza, Bárbara C. Krug, Ida V.D. Schwartz   +4 more
doaj   +1 more source

Olipudase alfa IgE-mediated anaphylaxis prevented by omalizumab and tailored desensitization in a child with acid sphingomyelinase deficiency. [PDF]

Pediatr Allergy Immunol
Pediatric Allergy and Immunology, Volume 37, Issue 5, May 2026.
Fiori L, Tagi VM, Beretta S, Montanari C, Greco IP, Zuccotti G, D'Auria E.   +6 more
europepmc   +2 more sources

Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa [PDF]

, 2014
BackgroundFabry disease is an X-linked inherited lysosomal storage disease that can be treated with the enzymes of agalsidase beta (Fabrazyme) and agalsidase alfa (Replagal).
Chiang, Chuan-Chi, Li, Cheng-Fang, Huang, Chun-Kai, Liu, Hao-Chuan, Lee, Li-Hong, Li, Shao-Tzu, Niu, Dau-Ming, Shen, Chia-I, Lin, Hsiang-Yu, Liao, Hsuan-Chieh, Lee, Pi-Chang, Lin, Shuan-Pei, Hsu, Ting-Rong, Huang, Yu-Hsiu   +13 more
core   +1 more source

Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies.

PLoS ONE, 2017
BackgroundAnderson-Fabry disease (AFD) is an X-linked recessive inborn error of glycosphingolipid metabolism caused by a deficiency of alpha-galactosidase A. Renal failure, heart and cerebrovascular involvement reduce survival. A Cochrane review provided
Regina El Dib, Huda Gomaa, Alberto Ortiz, Juan Politei, Anil Kapoor, Fellype Barreto   +5 more
doaj   +1 more source

Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

Orphanet Journal of Rare Diseases, 2022
Background Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare diseases. The year 2021 marks the 20th
Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, Derralynn A. Hughes, Christoph Kampmann, Atul B. Mehta, Kathleen Nicholls, Dau-Ming Niu, Guillem Pintos-Morell, Ricardo Reisin, Michael L. West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha, Roberto Giugliani   +14 more
doaj   +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

Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease

Orphanet Journal of Rare Diseases
Aim The aim of our multicenter study was to investigate the safety and efficacy of enzyme replacement therapy (ERT) and chaperone therapy on the disease progression in female Fabry disease (FD) patients and to compare the individual treatment regimens ...
Malte Lenders, Albina Nowak, Markus Cybulla, Jessica Kaufeld, Anja Friederike Köhn, Nicole Maria Muschol, Christine Kurschat, Eva Brand   +7 more
doaj   +1 more source

Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease

Orphanet Journal of Rare Diseases, 2019
Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement therapies with agalsidase alfa and beta have
Wladimir Mauhin, Olivier Lidove, Olivier Benveniste   +2 more
doaj   +1 more source