Results 101 to 110 of about 57,841 (208)

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

Genotype–Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype

Molecular Genetics &Genomic Medicine, Volume 12, Issue 12, December 2024.
The genotype and phenotype of Mexican patients with Fabry disease (FD) are similar to other populations. Atypical phenotype of FD, such as the one associated with the novel variant c.122C>G, can be a diagnostic challenge, as it can be mixed up with multiple sclerosis.
Tamara N. Kimball, Pamela Rivero‐García, Eduardo R. Argaiz, Jorge Eduardo Gaytan‐Arocha, Norma Ofelia Uribe Uribe, Juan José Morales Suárez   +5 more
wiley   +1 more source

The gatekeeper images in hypertrophic cardiomyopathy: the role of native T1 mapping in Anderson-Fabry disease

Monaldi Archives for Chest Disease
We presented a case of a 49-year-old presenting with atypical chest pain and hypertrophic phenotype cardiomyopathy without coronary artery disease.
Marzia Testa, Eleonora Indolfi, Guido Pastorini, Enrica Conte, Mauro Feola   +4 more
doaj   +1 more source

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

Reshuffling of Azorean Coastal Marine Biodiversity Amid Climate Change

Journal of Biogeography, Volume 51, Issue 12, Page 2546-2555, December 2024.
ABSTRACT Aim Climate change poses a challenge to the Azores' biodiversity, with consequences that remain unexplored. To shed light on the potential impacts of climate change, we have developed a large ensemble of species distribution models (SDMs) for species found in the coastal marine environments and examined their spatiotemporal turnover and ...
Juan David González‐Trujillo, Babak Naimi, Jorge Assis, Miguel B. Araújo   +3 more
wiley   +1 more source

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

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

Gene Therapy of Anderson-Fabry Disease

Current Gene Therapy, 2019

Antonino, Tuttolomondo, Irene, Simonetta, Antonio, Pinto   +2 more
openaire   +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

Diagnóstico y tratamiento de la enfermedad de Fabry [PDF]

, 2017
El texto en español se encuentra disponibe en http://doi.org/10.1016/j.medcli.2016.09.047This work was supported by FIS PI13/00047, PI15/00298, CP14/00133, FEDER funds ISCIII-RETIC REDinREN RD12/0021 and RD16/0009, Sociedad Española de Nefrología ...
Ortiz, Alberto, Sánchez-Niño, María Dolores   +1 more
core   +2 more sources