Results 91 to 100 of about 31,122 (181)

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

Abstracts of the 18th SCWD Conference, 11‐13 December 2025 in Rome/Italy

JCSM Communications, Volume 9, Issue 1, January/June 2026.
wiley   +1 more source

Gene Editing in Fabry Disease: A Strategy Delineation

, 2022
Oral presentation by first authorThe use of iPSCs, in the last years became wide spread, even in our group at INSA, the use of iPSCs to develop models of disease is now envisaged for various Lysosomal Storage Diseases.
Moreira, Luciana, Amaral, Olga, Duarte, Ana J., Ribeiro, Diogo   +3 more
core  

Cardiovascular comorbidities in Anderson-Fabry disease: prevalence and clinical significance

reservedBackground: Anderson–Fabry disease (AFD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations leading to α-galactosidase A deficiency.
GATTARI, BIANCA MARIA
core  

Anderson-Fabry disease: long-term echocardiographic follow-up under enzyme replacement therapy

, 2008
AIMS: Anderson-Fabry disease affects various organ systems due to glycosphingolipid accumulation. Enzyme replacement therapy (ERT) has been reported to decrease left ventricular wall thickening (LVWT) and to improve diastolic dysfunction.
C. H. Attenhofer Jost, Jenni, R., Zuber, M, Seifert, B., Schulthess, G., Zuber, M., Attenhofer Jost, C H, Schulthess, G, Widmer, U, Seifert, Burkhardt, Attenhofer Jost, C. H., M. Zuber, G. Schulthess, Widmer, U., U. Widmer, Jenni, R, Kovacevic-Preradovic, T., B. Seifert, A. Fischer, Fischer, A., R. Jenni, Fischer, A, T. Kovacevic-preradovic, Kovacevic-Preradovic, T   +23 more
core   +1 more source

Prominent longitudinal strain reduction of left ventricular basal segments in treatment-naïve Anderson-Fabry disease patients

, 2019
Little is known about regional longitudinal strain (LS) distribution in early stages of Anderson-Fabry disease (AFD) cardiomyopathy. We investigated regional left ventricular (LV) patterns of LS strain and base-to-apex behaviour of LS in treatment-naïve
Galderisi, Maurizio, Riccio, Eleonora, Lembo, Maria, Angela Losi, Maria, Maria Pellegrino, Angela, Sorrentino, Regina, Trimarco, Bruno, Citro, Rodolfo, Pisani, Antonio, Imbriaco, Massimo, Spinelli, Letizia, Santoro, Ciro, Esposito, Roberta   +12 more
core   +1 more source

Anderson–Fabry disease

Journal of Cardiovascular Medicine, 2018
Alessandro, Di Toro, Valentina, Favalli, Eloisa, Arbustini   +2 more
openaire   +3 more sources