Results 91 to 100 of about 5,515,441 (177)

When Should Cardiologists Suspect Anderson-Fabry Disease?

, 2010
Anderson-Fabry disease is a lysosomal storage disorder caused by α-galactosidase defects and progressive intracellular accumulation of globotriaosylceramide. The disease can be specifically treated with enzyme replacement therapy.
Eliana Disabella, Maurizia Grasso, Alan G. Fraser, Alessandra Serio, Narula, Jagat, Eloisa Arbustini, B.M.E. Valentina Favalli, Serio, Alessandra, Favalli, B.M.E. Valentina, Fabiana I. Gambarin, Grasso, Maurizia, Agozzino, Manuela, Marta Diegoli, Manuela Agozzino, Gambarin, Fabiana I., Luigi Tavazzi, Diegoli, Marta, Jagat Narula, Arbustini, Eloisa, Disabella, Eliana, Tavazzi, Luigi, Fraser, Alan Gordon   +21 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

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

Massive Coronary Microvascular Dysfunction in Severe Anderson-Fabry Disease Cardiomyopathy

, 2019
Anderson-Fabry disease (AFD) is a rare genetic lysosomal storage disorder caused by deficient activity of the enzyme α-galactosidase A, leading to progressive intracellular accumulation of neutral glycosphingolipids in different organs, including the ...
Bruno, Isabella, Crea, Filippo, Lillo, Rosa, Panaioli, Elena, Leccisotti, Lucia, Manna, Raffaele, Spagnoletti, Gionata, Graziani, Francesca, Marano, Riccardo   +8 more
core   +1 more source

Otological aspects of Fabry disease in patients with normal hearing [PDF]

, 2019
2019-08We investigated the otological aspects of Fabry disease (FD) in patients with normal hearing. Forty-one patients (21 men, 20 women) with bilaterally normal hearing were recruited, and their otological symptoms and hearing evaluations, which ...
Sone, Michihiko, Wang, Fei, Sugimoto, Satofumi, Yamamoto, Hiroshi, Teranishi, Masaaki, Tsuboi, Kazuya, Yoshida, Tadao   +6 more
core   +1 more source

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

Role of cardiac imaging in Anderson-Fabry cardiomyopathy

Cardiovascular Ultrasound, 2019
The Anderson-Fabry disease (AFD, or simply Fabry Disease, FD; MIM #301500) is a rare X-linked lysosomal storage disorder (Xq22.1) characterized by progressive renal failure, leading to morbidity through cardio- and cerebro-vascular involvement.
Walter Serra, Nicola Marziliano
doaj   +1 more source

ePoster

European Journal of Neurology, Volume 33, 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