Results 111 to 120 of about 62,873 (218)

Integrative Systems Biology Investigation of Fabry Disease

Diseases, 2016
Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3).
Marco Fernandes, Holger Husi
doaj   +1 more source

Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study. [PDF]

, 2017
Quality of life (QoL) is decreased in patients with Fabry disease (FD). To improve QoL, it is important to understand the influence of FD related characteristics, symptoms, and complications.
Arends, M, Biegstraaten, M, Hollak, CEM, Hughes, DA, Körver, S, Mehta, A   +5 more
core   +2 more sources

The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast

Journal of Genetic Counseling, Volume 33, Issue 5, Page 1026-1034, October 2024.
Abstract The use of expanded carrier screening (ECS) to assess reproductive risk for autosomal recessive (AR) or X‐linked recessive (XLR) conditions has been increasingly integrated into obstetrical care. The aim of this study was to determine what proportion of pediatric patients seen by a medical genetics practice could have had their diagnosis ...
Kelly Roche, Shama P. Khan, Christina Botti, Philip Giampietro, Sharon Anderson, Elena Ashkinadze   +5 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

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]

, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE, CAPUTO, VIVIANA, Castori, M, D'ANGELANTONIO, DANIELA, De Bernardo, C, Giannarelli, D, GRAMMATICO, Paola, LIPARI, MARTINA, Majore, S, PAIARDINI, ALESSANDRO, PIZZUTI, Antonio, Re, F, Zachara, E   +12 more
core   +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

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, R. 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

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  

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