Results 91 to 100 of about 10,271 (151)

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

Guidelines for diagnosis, monitoring and treatment of Fabry disease. [PDF]

, 2013
La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A.
Amartino, Hernan, Antongiovanni, Norberto, Cabrera, Gustavo Javier, Carmona, Sergio, Ceci, Romina, Choua, Martin, Ciceran, Alberto, Consenso de médicos de Asociación de Estudios y Difusión de las Enfermedades Lisosomales, De Maio, Sonia, Doxastakis, Griselda, Ebner, Roberto, Escobar, Ana Maria, Fainboim, Alejandro, Ferrari, Gustavo, Forrester, Mariano, Grupo Argentino de Diagnóstico y Tratamiento de la enfermedad de Fabry, Guelbert, Norberto Bernardo, Kisinovsky, Isaac, Luna, Paula, Marchesoni, Cinthia, Masllorens, Francisca, Neumann, Pablo, Politei, Juan, Reisin, Ricardo, Ripeau, Diego, Rozenfeld, Paula Adriana, Serebrinsky, Graciela, Tarabuso, Ana Lia, Tripoli, Juan   +28 more
core  

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  

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

Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy [PDF]

, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a common cardiac disease caused by a range of genetic and acquired disorders. The most common cause is genetic variation in sarcomeric proteins genes.
Rosmini, Stefania <1981>
core   +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

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

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

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