Results 41 to 50 of about 744,838 (140)

Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice

Molecular Genetics and Metabolism Reports
Enzyme replacement therapy (ERT) with recombinant human α-galactosidase A (α-Gal A) drugs (agalsidases) has been successfully used for treatment of Fabry disease, and three kinds of agalsidases are now available in Japan.
Takahiro Tsukimura, Tomoko Shiga, Tadayasu Togawa, Hitoshi Sakuraba   +3 more
doaj   +1 more source

Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naïve Fabry disease patients

BMC Pharmacology and Toxicology, 2017
Background Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the α-galactosidase A gene mutations. Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta.
Kazuya Tsuboi, Hiroshi Yamamoto
doaj   +1 more source

SGLT2 Inhibitors and Cardiovascular Outcomes in Patients With Fabry Disease: Observations From a Federated Research Network

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background and Aim Fabry disease (FD) is frequently complicated by renal impairment and cardiovascular events; however, evidence on sodium–glucose cotransporter‐2 inhibitors (SGLT2i) in this population is scarce. Accordingly, we assessed the association between SGLT2i exposure and cardiovascular outcomes in adults with FD. Methods We conducted
Leandra Serio, Michele Rossi, Amir Askarinejad, Enrico Tartaglia, Tommaso Bucci, Enrica Marrone, Dinesh K. Kalra, Claudio Ferri, Gregory Y. H. Lip   +8 more
wiley   +1 more source

Effect of reduced agalsidase beta dosage in fabry patients: The Australian experience

, 2012
BACKGROUND: In Australia, enzyme replacement therapy (ERT) for Fabry Disease (FD), both Agalsidase alfa (Replagal, Shire HGT) and beta (Fabrazyme, Genzyme), is funded and monitored through a specific government program.
Sillence, D, Chapman, I, Nicholls, K, Goldblatt, J, Ghali, J, Thomas, M, Fletcher, J, Denaro, C   +7 more
core   +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

An Unusual Etiology of Bayés' Syndrome: Fabry Disease

Annals of Noninvasive Electrocardiology, Volume 31, Issue 4, July 2026.
This patient with gene confirmed Fabry disease had advanced interatrial conduction block as seen on atrial‐specific vector tracing demonstrating sinus bradycardia with first‐degree AV block and sinus P‐wave terminal delay with biphasic morphology. The patient was later diagnosed with atrial fibrillation, which led to the diagnosis of Bayés' syndrome ...
Nicholas E. Kunce, Andre Silva, Mark Haigney, Adam Kisling   +3 more
wiley   +1 more source

Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage

, 2012
The interruption of the manufacturing process of agalsidase beta has led to a worldwide shortage of this drug. In the EU, nearly all patients initially reduced their agalsidase beta dose, and many of these switched to agalsidase alfa (Replagal Shire HGT).
Alessandro P. Burlina, Michael West, Franco Cecchi, Burlina, Alessandro P, Waldek, Steven, Alberto Rivera, Cox, Timothy M, Linthorst, Gabor E, Camilla Tondel, Lachmann, Robin, Uma Ramaswami, Roberto Giugliani, Ramaswami, Uma, Hughes, Derralynn, Anna Tylki-Szymanska, Weidemann, F, Atul Mehta, Svarstad, Einar, F. Weidemann, Arndt Rolfs, Hollak, Carla E M, Rossella Parini, Carla E. M. Hollak, Rivera, Alberto, Rolfs, Arndt, Ulla Feldt-Rasmussen, Cecchi, Franco, Mehta, Atul, Feldt-Rasmussen, Ulla, Einar Svarstad, Steven Waldek, Janice M. Fletcher, Ortiz, Alberto, West, Michael, Houge, Gunnar, Vujkovac, Bojan, Derralynn Hughes, Robin Lachmann, Gabor E. Linthorst, Bojan Vujkovac, Monica Lopez, Iikka Kantola, Fletcher, Janice M, Kantola, Iikka, Timothy M. Cox, Tondel, Camilla, Tylki-Szymanska, Anna, Parini, Rossella, Lopez, Monica, Giugliani, Roberto, Gunnar Houge, Alberto Ortiz   +51 more
core   +1 more source

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon‐Optimized hGLA cDNA Results in Long‐Term Disease Correction

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
AAV‐mediated gene therapy targets the liver to produce and secrete into circulation functional α‐Gal A, which is taken up by tissues to reduce glycosphingolipid accumulation and prevent disease progression in juvenile Fabry mice, even at low AAV doses. ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA ...
Himanshi Saxena, Rossana Domenis, Giulia Romano, Jessica Biasizzo, Martina Ferro, Dania Ferino, Antonio Vicidomini, Alessandra Iaconcig, Giulia Bortolussi, Lorena Zentilin, Andrea Dardis, Andrés F. Muro   +11 more
wiley   +1 more source

Update on role of agalsidase alfa in management of Fabry disease [PDF]

, 2011
Uma RamaswamiPaediatric Metabolic Unit, Cambridge University Hospitals, Cambridge, UKAbstract: Fabry disease (FD) is an X-linked lysosomal storage disorder that affects both men and women.
Uma Ramaswami
core   +1 more source