Results 81 to 90 of about 31,122 (181)

DIAGNOSIS OF ANDERSON-FABRY DISEASE

, 2018
Anderson-Fabryjeva bolest je nakon Gaucherove bolesti najčešća lizosomalna bolest nakupljanja. Bolest se nasljeđuje X-vezano recesivno. Karakterizirana je smanjenom aktivnošću enzimaIntroduction: Anderson- Fabry disease is one of the most common ...
JURAŠIĆ, MILJENKA JELENA, NEVENA GRBIĆ, LUCIJA ZADRO MATOVINA, IRIS ZAVOREO, ZADRO MATOVINA, LUCIJA, BAŠIĆ KES, VANJA, GRBIĆ, NEVENA, VANJA BAŠIĆ KES, MILJENKA JELENA JURAŠIĆ, ZAVOREO, IRIS   +9 more
core   +1 more source

Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease

Frontiers in Cardiovascular Medicine
Fabry disease (FD), also known as Anderson-Fabry disease, is a hereditary disorder of glycosphingolipid metabolism, caused by a deficiency of the lysosomal alpha-galactosidase A enzyme.
Oriana De Marco, Jessica Gambardella, Jessica Gambardella, Antonio Bianco, Antonella Fiordelisi, Federica Andrea Cerasuolo, Antonietta Buonaiuto, Roberta Avvisato, Ivana Capuano, Maria Amicone, Teodolinda Di Risi, Teodolinda Di Risi, Eleonora Riccio, Letizia Spinelli, Antonio Pisani, Antonio Pisani, Guido Iaccarino, Guido Iaccarino, Daniela Sorriento, Daniela Sorriento   +19 more
doaj   +1 more source

ANDERSON-FABRY DISEASE AND RENAL TRANSPLANTATION

, 2011
Anderson-Fabrijeva bolest (AFB) je rijetka bolest nakupljanja koja se prenosi putem X kromosoma, a dovodi do progresivnog nakupljanja globotriaozilceramida u visceralnim organima i endotelu krvnih žila. Bolest prevenstveno zahvaća muškarce.
KAŠTELAN, ŽELJKO, TVRTKO HUDOLIN, NIKOLINA BAŠIĆ-JUKIĆ, PETAR KES, INES MESAR, BAŠIĆ-JUKIĆ, NIKOLINA, ŽELJKO KAŠTELAN, MESAR, INES, HUDOLIN, TVRTKO, MARIJANA ĆORIĆ, KES, PETAR, ĆORIĆ, MARIJANA   +11 more
core   +1 more source

Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond

, 2021
Current therapy for Anderson–Fabry disease in Poland includes hospital or clinic-based intravenous enzyme replacement therapy with recombinant agalsidase alpha or beta, or oral pharmacological chaperone therapy with migalastat.
Stanisława Bazan-Socha, Oko-Sarnowska, Zofia, Kłopotowski, Mariusz, Beata Błażejewska-Hyżorek, Błażejewska-Hyżorek, Beata, Mariusz Kłopotowski, Bazan-Socha, Stanisława, Krzysztof Pawlaczyk, Pawlaczyk, Krzysztof, Jarosław Sławek, Andrzej Oko, Kusztal, Mariusz, Nowicki, Michał, Mariusz Kusztal, Oko, Andrzej, Michał Nowicki, Sławek, Jarosław, Zofia Oko-Sarnowska   +17 more
core   +1 more source

Pulmonary involvement in Fabry disease

, 2006
Pulmonary involvement in Fabry disease has received less attention than the effects of the disease on the kidneys, nervous system or heart. However, data from FOS -the Fabry Outcome Survey - are now helping to elucidate the pulmonary manifestations of ...
Barbey, F., Aubert, J.D.
core  

Quali alterazioni dell’esame urine possono preludere ad un interessamento renale della malattia di Fabry

Giornale di Clinica Nefrologia e Dialisi, 2019
The markers of renal involvement in Anderson-Fabry disease are defects of urine concentration, presence of cells with lipid cytoplasmatic inclusions (mulberry bodies) and podocyturia. The loss of urine concentrating capacity is not easy to detect and the
Sandro Feriozzi, Mario Mangeri
doaj   +1 more source

ISEV2026 Abstract Book

Journal of Extracellular Vesicles, Volume 15, Issue S1, June 2026.
wiley   +1 more source

Towards a one‐time cure for Fabry disease: Lentivirus‐mediated haematopoietic stem and progenitor cell gene therapy

Clinical and Translational Discovery, Volume 5, Issue 2, April 2025.
Rina Kansal
wiley   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Update on role of agalsidase alfa in management of Fabry disease

, 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   +2 more sources