Results 81 to 90 of about 31,072 (153)

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   +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

Atypical Distribution of Late Gadolinium Enhancement of the Left Ventricle on Cardiac Magnetic Resonance in Classical Anderson-Fabry Disease

Journal of the Belgian Society of Radiology, 2016
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A. Approximately 50% of patients with AFD may have cardiac involvement.
Shusuke Kasuya, Masayo Suzuki, Tsutomu Inaoka, Masayuki Odashima, Tomoya Nakatsuka, Rumiko Ishikawa, Wataru Tokuyama, Hitoshi Terada   +7 more
doaj   +1 more source

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease. [PDF]

, 2017
BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A.
DAIDONE, Mario, VOGIATZIS, Danai, Di Chiara T, Tuttolomondo A, Colomba P, Pinto A., Zizzo C, Pecoraro R, Nucera A, Simonetta I, Miceli S, Scaglione R, Corpora F, Duro G, Della Corte V   +14 more
core   +1 more source

Biomarkers and Imaging Findings of Anderson–Fabry Disease—What We Know Now

Diseases, 2017
Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation.
Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes   +6 more
doaj   +1 more source