Results 111 to 120 of about 57,841 (208)

Alternating low‐rank tensor reconstruction for improved multiparametric mapping with cardiovascular MR Multitasking

Magnetic Resonance in Medicine, Volume 92, Issue 4, Page 1421-1439, October 2024.
Abstract Purpose To develop a novel low‐rank tensor reconstruction approach leveraging the complete acquired data set to improve precision and repeatability of multiparametric mapping within the cardiovascular MR Multitasking framework. Methods A novel approach that alternated between estimation of temporal components and spatial components using the ...
Tianle Cao, Zheyuan Hu, Xianglun Mao, Zihao Chen, Alan C. Kwan, Yibin Xie, Daniel S. Berman, Debiao Li, Anthony G. Christodoulou   +8 more
wiley   +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

PET-CMR in heart failure - synergistic or redundant imaging? [PDF]

, 2017
Imaging in heart failure (HF) provides data for diagnosis, prognosis and disease monitoring. Both MRI and nuclear imaging techniques have been successfully used for this purpose in HF.
Quail, MA, Sinusas, AJ
core   +1 more source

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

International Journal of Molecular Sciences, 2018
Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A).
G. Duro, C. Zizzo, G. Cammarata, A. Burlina, A. Burlina, G. Polo, Simone Scalia, Roberta Oliveri, S. Sciarrino, Daniele Francofonte, R. Alessandro, A. Pisani, G. Palladino, R. Napoletano, M. Tenuta, D. Masarone, G. Limongelli, E. Riccio, A. Frustaci, C. Chimenti, C. Ferri, F. Pieruzzi, M. Pieroni, M. Spada, C. Castana, M. Caserta, I. Monte, M. Rodolico, S. Feriozzi, Y. Battaglia, L. Amico, M. Losi, C. Autore, M. Lombardi, C. Zoccali, A. Testa, M. Postorino, R. Mignani, E. Zachara, Antonello Giordano, P. Colomba   +40 more
semanticscholar   +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

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