Zobrazeno 1 - 10 of 125 pro vyhledávání: '"Ricardo, Reisin"'
1
Akademický článek
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
Autor: Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, Derralynn A. Hughes, Christoph Kampmann, Atul B. Mehta, Kathleen Nicholls, Dau-Ming Niu, Guillem Pintos-Morell, Ricardo Reisin, Michael L. West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha, Roberto Giugliani
Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
Abstract Background Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare diseases. The year 2021 m
Externí odkaz: https://doaj.org/article/2531f008988d4f348d67169f6b92893c
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2
Akademický článek
Central Venous Reflux, a Rare Cause of Neurological Manifestations in Hemodialysis Patients: A Case Report and Literature Review
Autor: Francisco Caiza-Zambrano, Carolina Mora Palacio, Silvia Garbugino, Fabio Maximiliano Gonzalez, Marta Bala Biolcati, Miguel Ángel Saucedo, Carlos Rugilo, Mariano Forrester, Fernando Lombi, Manuel Fernández Pardal, Ricardo Reisin, Pablo Bonardo
Publikováno v: Neurointervention, Vol 17, Iss 1, Pp 58-64 (2022)
Central venous disease (CVD) is a serious complication in hemodialysis patients. Neurological manifestations are rare. We describe a female with end-stage renal disease with throbbing headache accompanied by paresthesia, weakness, and abnormal postur
Externí odkaz: https://doaj.org/article/59e1573ad4194f9c959062686569b1c6
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3
Akademický článek
Guía de Práctica Clínica para el diagnóstico de compromiso orgánico en amiloidosis: Parte 3/3 Año 2020
Autor: Maria Lourdes Posadas Martinez, María Adela Aguirre, Gustavo Greloni, Sebastian Marciano, Diego Perez de Arenaza, Marcelo Rugiero, Mauricio Tomei, Veronica Peuchot, Elsa Nucifora, Lucas Sebastián Aparicio, Luciana Leon Cejas, Rosario Luxardo, Paula Popelka, Ricardo Reisin, Pamela Seilikovivh, Carlos Federico Varela
Publikováno v: Revista de la Facultad de Ciencias Médicas de Córdoba, Vol 79, Iss 4 (2022)
Métodos: Se generó un listado de preguntas con el formato PICO centradas en la especificidad y sensibilidad de las pruebas diagnósticas en amiloidosis. Se realizó la búsqueda en PubMed durante julio-agosto del 2019, en inglés y español. Los ni
Externí odkaz: https://doaj.org/article/1ea3996b609249d8b18c466b388bf361
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4
Akademický článek
Depression: The Hidden Problem in Fabry Disease. A Review
Autor: Anibal Chertcoff, Luciana León Cejas, Cintia Marchesoni, Ricardo Reisin
Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Fabry disease (FD) is an X-linked disorder of glycosphingolipids caused by mutations of the GLA gene. The classical form presents with neuropathic pain and gastrointestinal complaints since childhood or adolescence and progressing into adult
Externí odkaz: https://doaj.org/article/f593d4cd9a884a83b23b05fae5b517dc
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6
Akademický článek
Prevalence of Fabry Disease in Young Patients with Stroke in Argentina
Autor: Ricardo, Reisin, Julieta, Mazziotti, Luciana, León Cejas, Pablo, Bonardo, Diego, Miñarro, Manuel, Fernández Pardal, Tillard, Belén, Laura, De Francesco, Verónica, Tkachukt, Janina, Humanchio, Patricia, Riccio, Luciano, Sposatto, Francisco, Klein, Francisco, Muñoz, Eugenia, Gonzalez Toledo, Sebastián, Ameriso, Virginia, Pujol, Guillermo, Povedano, Alberto, Zinnerman, Alejandra, Martínez, Eugenia, Conti, Juan, Messina, Ignacio, Casas Parera, José, Tafur, Emilia, Gatto, Gabriel, Persi, Eduardo, Bendersky, Lorena, Montero, Alicia, Ateca, Ricardo, Allegri, Leonardo, Bartoloni, Mariana, Di Egidio, Celina, Ciardi, Alejandro, Alleva, Alberto, Rivero, Marina, Romano, Patricia, Cairola, LucerosAnalía, Sanchez, Susana, Meschengesier, Javier, Halfon, Pablo, Schubaroff, Cristian, Calandra, Martín, Pedersoli Luis, Laura, Zuccolo, Félix, Reynoso, Pedro, Nofal, Mónica, Leri, Guadalupe, Bruera, Jure, Lorena, Andrea, Sotelo, Reisin, Ricardo C. *, *, Mazziotti, Julieta *, Cejas, Luciana León *, Zinnerman, Alberto †, Bonardo, Pablo *, Pardal, Manuel Fernández *, Martínez, Alejandra †, Riccio, Patricia ‡, Ameriso, Sebastián §, Bendersky, Eduardo ‖, Nofal, Pedro , Cairola, Patricia #, Sotelo, Andrea ††, Rozenfeld, Paula ‡‡, Ceci, Romina ‡‡, Casas-Parera, Ignacio §§, Sánchez-Luceros, Analía ‖‖
Publikováno v: In Journal of Stroke and Cerebrovascular Diseases March 2018 27(3):575-582
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7
Akademický článek
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative
Autor: Derralynn A Hughes, Raphael Schiffmann, Ales Linhart, Patricio Aguiar, Patrick B Deegan, Fatih Ezgu, Andrea Frustaci, Olivier Lidove, Jean-Claude Lubanda, Kathleen Nicholls, Dau-Ming Niu, Uma Ramaswami, Ricardo Reisin, Paula Rozenfeld, Einar Svarstad, Roser Torra, Bojan Vujkovac, Michael L West, Jack Johnson, Mark J Rolfe
Publikováno v: BMJ Open, Vol 10, Iss 10 (2020)
Objectives The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatmen
Externí odkaz: https://doaj.org/article/d715f78e37c54b91a11df4c1b094fbaf
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