Results 121 to 130 of about 62,873 (218)

Cardiac T1 Mapping and Extracellular Volume (ECV) in clinical practice: a comprehensive review. [PDF]

, 2016
Cardiovascular Magnetic Resonance is increasingly used to differentiate the aetiology of cardiomyopathies. Late Gadolinium Enhancement (LGE) is the reference standard for non-invasive imaging of myocardial scar and focal fibrosis and is valuable in the ...
A Gulati, AM Maceira, C Parsai, CT Sibley, D Carrick, D Carrick, Daniel R. Messroghli, David A. Broadbent, DC Look, DM Sado, DM Sado, DM Sado, DO h-Ici, DR Messroghli, E Dall’Armellina, F aus dem Siepen, FL Ruberg, G Todiere, GC Fonarow, H Xue, H Xue, JA McCrohon, JC Moon, JM Bakker de, JN Dungu, John P. Greenwood, JP Carpenter, JT Clarke, K Chow, KS Patel, M Fontana, M Ugander, MG Friedrich, MS Maron, MY Su, N Kawel, N Kawel-Boehm, NA Ntusi, NA Ntusi, P Gujja, P Kellman, P Kellman, Pankaj Garg, Philip Haaf, PP Swoboda, RB Thompson, RJ Kim, S Dass, S Weingärtner, SK Piechnik, SM Banypersad, Sven Plein, UK Radunski, VM Ferreira, VM Ferreira, VM Ferreira, VO Puntmann, WG Hundley, Y Kobayashi   +58 more
core   +3 more sources

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

Doença de Fabry - importância do rastreamento em córnea verticilata: relato de caso [PDF]

, 2011
Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea verticillata and skin lesions. In
Arantes, Tiago Eugênio Faria e, Muccioli, Cristina, Yonamine, Fabio Yamasato   +2 more
core   +2 more sources

Fabry disease: will markers of early disease enable early treatment and better outcomes? [PDF]

, 2016
PURPOSE OF REVIEW: This review explores the clinical and pathological features of Fabry disease. New modalities of imaging, biomarkers and long-term treatment effects are discussed. RECENT FINDINGS: Fabry disease is clinically heterogeneous, and in women
Hughes, DA
core  

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

Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy. [PDF]

, 2017
Previous cross-sectional studies reported a high prevalence of ascending aorta dilations/aneurysms in male adults with Fabry disease, independently of cardiovascular risk factors.
Barbey, F., Dormond, O., Hajdu, S., Monney, P., Qanadli, S.D., Schwitter, J., Tran, C.   +6 more
core   +1 more source

Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies

PLoS ONE, 2017
Background Anderson-Fabry disease (AFD) is an X-linked recessive inborn error of glycosphingolipid metabolism caused by a deficiency of alpha-galactosidase A. Renal failure, heart and cerebrovascular involvement reduce survival.
R. El Dib, Huda Gomaa, A. Ortiz, J. Politei, A. Kapoor, F. Barreto   +5 more
semanticscholar   +1 more source

Kidneys in Anderson-Fabry disease

Acta clinica Croatica, 2005
Anderson-Fabry disease is an X-linked recessive glycolipid storage disease caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Numerous mutations are responsible for development of the disease. Clinical manifestations include acroparesthesia from childhood, corneal dystrophy, angiokeratomas, hypohidrosis, hearing loss and, with ...
Kes, Petar, Bašić-Jukić, Nikolina
openaire   +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

Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease [PDF]

, 2014
BACKGROUND: Management of Anderson-Fabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management.
Antuzzi, D., Bembi, B., Benso, A., Carraro, G., Chimenti, C., Colla, L., Concolino, D., Cuonzo, M. T., Degennaro, E., Del Rosso, G., Diomedi, M., Feliciani, C., Feriozzi, S., Ficcadenti, A., Frustaci, A., Gnarra, M., Maccarone, M., Mancuso, M., Matucci, A., Mignani, R., Musumeci, B., Nencini, P., Parini, R., Piga, S., Pisani, A., Re, F., Salviati, A., Spada, M., Vultaggio, A., Zachara, E., Zedde, M. L., Zoli, P. G.   +31 more
core   +1 more source