Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Fabry disease cardiomyopathy"'
Autor:
Andrea Frustaci, Romina Verardo, Nicola Galea, Maria Alfarano, Michele Magnocavallo, Livia Marchitelli, Luigi Sansone, Manuel Belli, Mario Cristina, Emanuela Frustaci, Matteo Antonio Russo, Cristina Chimenti
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 8 (2024)
Background The limited ability of enzyme replacement therapy (ERT) in removing globotriaosylceramide from cardiomyocytes is recognized for advanced Fabry disease cardiomyopathy (FDCM). Prehypertrophic FDCM is believed to be cured or stabilized by ERT
Externí odkaz:
https://doaj.org/article/c9780d30183d4f80b6f28c00482e7bc6
Akademický článek
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Autor:
Patrício Aguiar, Olga Azevedo, Rui Pinto, Jacira Marino, Carlos Cardoso, Nuno Sousa, Damião Cunha, Derralynn Hughes, José Luís Ducla Soares
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 7, Iss 6 (2018)
BackgroundCardiomyopathy is a major determinant of overall Fabry disease (FD) prognosis, with the worst outcomes in patients with myocardial fibrosis. Late gadolinium enhancement is currently the gold standard for evaluation of replacement myocardial
Externí odkaz:
https://doaj.org/article/3bd80d42c1504cdd8da40d77e4cefa40
Autor:
Rob, Daniel
Echocardiography plays a key role in the evaluation of functional and structural changes of the heart. Fabry disease (FD) is a genetic (X-linked) lysosomal storage disease caused by mutations in the gene for alpha-galactosidase A. Cardiovascular invo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2186::e557bb77e74978d697a6a4aba69fb437
http://www.nusl.cz/ntk/nusl-519851
http://www.nusl.cz/ntk/nusl-519851
Autor:
Markus Niemann, Frank Weidemann
Publikováno v:
Cardiogenetics, Vol 3, Iss 1, Pp e3-e3 (2013)
Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. The genetic defect leads to progressive intracellular accumulation of Gl3 in various tissues, including heart, kidney, vascular endothelium and the ne
Externí odkaz:
https://doaj.org/article/eff02244341b459392af493521ff4bf0
Atrial Dysfunction Assessed by Cardiac Magnetic Resonance as an Early Marker of Fabry Cardiomyopathy
Autor:
Andrea Bernardini, Francesca Carubbi, Maurizio Pieroni, Yuri Battaglia, Kelvin Chow, Alessandro P. Burlina, Marco Spada, Paola Lusardi, Silvia Pica, Renzo Mignani, Stefano Figliozzi, Massimo Lombardi, Francesca Graziani, Lara Tondi, Sara Boveri, Iacopo Olivotto, Antonia Camporeale, Federico Pieruzzi
Anderson-Fabry disease (AFD) cardiomyopathy is characterized by glycosphingolipid (Gb3) storage in all cellular components, with consequent left ventricular hypertrophy (LVH). Gb3 accumulation also involves atrial myocytes ([1][1]), ultimately leadin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::767d88d126e3aed5d7c72e63b2196919
https://hdl.handle.net/11380/1226263
https://hdl.handle.net/11380/1226263
Autor:
Lorenzo Monserrat, Maddalena Graziosi, Irene Capelli, Ornella Leone, Mario Torrado, Giovanna Cenacchi, Emilia Maneiro, Raffaello Ditaranto, Ferdinando Pasquale, Claudio Rapezzi, Fabio Niro, Giovanni Vitale, Elena Biagini
Publikováno v:
Canadian Journal of Cardiology. 36:1554.e1-1554.e3
The coexistence of GLA (Pro259Ser, c.775C>T) and MYBPC3 (c.1351+2T>C) mutations was found in a female patient with hypertrophic cardiomyopathy. Histology documented abundant vacuolisation with osmiophilic lamellar bodies and positive Gb3 immunohistoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e17f0a8f661f683170037684a00c41a3
https://doi.org/10.1016/j.cjca.2020.04.008
https://doi.org/10.1016/j.cjca.2020.04.008
Autor:
Damião Cunha, Olga Azevedo, José Luís Ducla Soares, Nuno Sousa, Jacira Marino, Rui Pinto, Derralynn Hughes, Carlos Cardoso, Patricio Aguiar
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Cardiomyopathy is a major determinant of overall Fabry disease (FD) prognosis, with the worst outcomes in patients with myocardial fibrosis. Late gadolinium enhancement is currently the gold standard for evaluation of replacement myocardial fibrosis;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eb4f7e05956fc9e068ef7f1c48f3123
https://pubmed.ncbi.nlm.nih.gov/29535138
https://pubmed.ncbi.nlm.nih.gov/29535138
Akademický článek
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