Results 91 to 100 of about 10,310 (200)

A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report [PDF]

, 2012
Background: Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids
Albeggiani, G, ALESSANDRO, Riccardo, COLOMBA, Paolo, Duro, G., Iemolo, F, Imbraco, M, Pisani, A, Zizzo, Carmela   +7 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

Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease. [PDF]

, 2015
BACKGROUND: We present the case of a white 35-year-old male with a diagnosis of Fabry disease and negative family history. CASE PRESENTATION: At the age of 31, he underwent a renal biopsy with a diagnosis of hypertension-induced nephroangiosclerosis.
Daniele, Aurora, Di Domenico, Carmela, Nigro, Ersilia, Pisani, Antonio, Riccio, Eleonora, Salvatore, Francesco   +5 more
core   +3 more sources

A consensus statement by the Society for Cardiovascular Magnetic Resonance (SCMR) endorsed by the European Association for Cardiovascular Imaging (EACVI) [PDF]

, 2017
Parametric mapping techniques provide a non-invasive tool for quantifying tissue alterations in myocardial disease in those eligible for cardiovascular magnetic resonance (CMR).
Ferreira, Vanessa M., Grosse-Wortmann, Lars, He, Taigang, Kellman, Peter, Mascherbauer, Julia, Messroghli, Daniel R., Moon, James C., Nezafat, Reza, Salerno, Michael, Schelbert, Erik B. [u.a.]   +9 more
core   +2 more sources

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

Anderson–Fabry Disease Homozygosity: Rare Case of Late-Onset Variant

Cardiogenetics
Anderson–Fabry Disease (AFD) is a rare, X-linked lysosomal storage disorder caused by a mutation in the α-Galactosidase A gene resulting in α-Galactosidase A enzyme (α-Gal A) deficiency.
Gabriela Dostalova, Jaroslav Januska, Michaela Veselá, Petra Reková, Anna Taborska, Martin Pleva, David Zemanek, Aleš Linhart   +7 more
doaj   +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  

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events [PDF]

, 2017
This is a retrospective analysis of Fabry Outcome Survey data from children/adults (n = 677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity endpoints separately ...
Beck, Michael, Giugliani, Roberto, Hughes, Derralynn A, Kampmann, Christoph, Pintos-Morell, Guillem, Ramaswami, Uma, Universitat Autònoma de Barcelona, West, Michael L.   +7 more
core   +4 more sources

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. [PDF]

, 2015
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files.
Arngrímsson, Reynir, Barbey, Frederic, Biegstraaten, Marieke, Boks, Lut, Cecchi, Franco, Deegan, Patrick B, Feldt-Rasmussen, Ulla, Geberhiwot, Tarekegn, Germain, Dominique P, Hendriksz, Chris, Hollak, Carla E M, Hughes, Derralynn A, Kantola, Ilkka, Karabul, Nesrin, Lavery, Christine, Linthorst, Gabor E, Mehta, Atul, Oliveira, João P, Parini, Rossella, Ramaswami, Uma, Rudnicki, Michael, Serra, Andreas, Sommer, Claudia, Sunder-Plassmann, Gere, Svarstad, Einar, Sweeb, Annelies, Terryn, Wim, Tylki-Szymanska, Anna, Tøndel, Camilla, van de Mheen, Erica, Vujkovac, Bojan, Weidemann, Frank, Wijburg, Frits A, Woolfson, Peter   +33 more
core   +1 more source