Results 141 to 150 of about 9,399,207 (308)

Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease

Biomedicines
Background: The multisystem manifestations of Fabry disease can create major challenges in patient care. Although enzyme replacement therapy with recombinant agalsidase beta has demonstrated clinical benefits, the standard fortnightly, multi-hour ...
Dominique P. Germain, Alice Porto Vasconcelos, Lien Tran Thi Phuong, Najya Bedreddine, Mihaela Turcan, Wenting Trang, Lynda Barache   +6 more
doaj   +1 more source

Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease

, 2021
Alaa Hamed, Pronabesh DasMahapatra, Nicole Lyn, Chad Gwaltney, Charlie Iaconangelo, Daniel Serrano, Vijay Modur, Juan Politei   +7 more
openalex   +1 more source

Exploring the burdens of women living with Fabry disease in Japan: A patient survey of 62 respondents

Molecular Genetics and Metabolism Reports
The challenges encountered by women living with Fabry disease in Japan are not well understood. This study aimed to elucidate the experiences of women with Fabry disease and their support networks from both female and male perspectives.
Masahisa Kobayashi, Ikuko Kaku, Nanae Goto, Mio Tsuchiya, Norio Sakai   +4 more
doaj   +1 more source

Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN) [PDF]

, 2017
Background. In Fabry nephropathy, alpha-galactosidase deficiency leads to accumulation of glycosphingolipids in all kidney cell types, proteinuria and progressive loss of kidney function. Methods.
Barbey, Federic, Bostad, Leif, Breunig, Frank, Burns, Áine, Cook, William J., Ferluga, Dusan, Fogo, Agnes B., Geldenhuys, Laurette, Grünfeld, Jean-Pierre, Howie, Alexander J., Moll, Solange, Müller, Justus, Noël, Laure-Hélène, Oliveira, João Paulo, Reeve, Roy, Svarstad, Einar, Valbuena, Carmen, Vujkovac, Bojan, Waldek, Stephen, Warnock, David G., West, Michael, Zhang, Xiao   +21 more
core  

Fabry disease: twenty novel α-galactosidase A mutations causing the classical phenotype [PDF]

, 2001
Grace A. Ashley, Junaid Shabbeer, Makiko Yasuda, Christine M. Eng, Robert J. Desnick   +4 more
openalex   +1 more source

Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week.

Journal of the American College of Cardiology, 2021
M. Pieroni, J. Moon, E. Arbustini, R. Barriales-Villa, A. Camporeale, A. C. Vujkovac, P. Elliott, A. Hagège, J. Kuusisto, A. Linhart, P. Nordbeck, I. Olivotto, Päivi Pietilä-Effati, M. Namdar   +13 more
semanticscholar   +1 more source

Improving a data mining based diagnostic support tool for rare diseases on the example of M. Fabry: Gender differences need to be taken into account.

PLoS ONE
BackgroundRare diseases often present with a variety of clinical symptoms and therefore are challenging to diagnose. Fabry disease is an x-linked rare metabolic disorder. The severity of symptoms is usually different in men and women.
Philipp Hahn, Werner Lechner, Rainer-Georg Siefen, Christina Lampe, Peter Nordbeck, Lorenz Grigull, Thomas Lücke   +6 more
doaj   +1 more source

Fabry Disease Presenting as End-Stage Kidney Disease

, 2023
Madeleine V. Pahl, Jean Hou
openalex   +1 more source

Pharmacokinetics, pharmacodynamics, and safety of moss‐aGalactosidase A in patients with Fabry disease

Journal of Inherited Metabolic Disease, 2019
Moss‐aGalactosidase A (moss‐aGal) is a moss‐derived version of human α‐galactosidase developed for enzyme replacement therapy in patients with Fabry disease. It exhibits a homogenous N‐glycosylation profile with >90% mannose‐terminated glycans.
J. Hennermann, L. Arash-Kaps, G. Fekete, A. Schaaf, A. Busch, T. Frischmuth   +5 more
semanticscholar   +1 more source

Left atrial morpho-functional changes in hypertrophic cardiomyopathy and Fabry disease: a CMR-feature tracking study [PDF]

, 2021
Alice Moroni, Lara Tondi, Antonia Camporeale, Valentina Milani, Silvia Pica, Maurizio Pieroni, Federico Pieruzzi, L Ferri, Roberto Arosio, Kelvin Chow, Massimo Lombardi   +10 more
openalex   +1 more source