Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Alessandro BURLINA"'
Autor:
Renzo Mignani, Federico Pieruzzi, Francesco Berri, Alessandro Burlina, Benito Chinea, Maurizio Gallieni, Maurizio Pieroni, Alessandro Salviati, Marco Spada
Publikováno v:
Нервно-мышечные болезни, Vol 7, Iss 2, Pp 37-47 (2017)
На сегодняшний день предложены 2 системы количественной оценки бремени гликогеноза с дефицитом α-галактозидазы: индекс оценки степени
Externí odkaz:
https://doaj.org/article/6d15b6bfc7fd4b2e8564b122d5fb975a
Autor:
Rocco Liguori, Alex Incensi, Silvia de Pasqua, Renzo Mignani, Enrico Fileccia, Marisa Santostefano, Elena Biagini, Claudio Rapezzi, Silvia Palmieri, Ilaria Romani, Walter Borsini, Alessandro Burlina, Roberto Bombardi, Marco Caprini, Patrizia Avoni, Vincenzo Donadio
Publikováno v:
PLoS ONE, Vol 12, Iss 7, p e0180581 (2017)
Fabry Disease (FD) is characterized by globotriaosylceramide-3 (Gb3) accumulation in several tissues and a small fibre neuropathy (SFN), however the underlying mechanisms are poorly known. This study aimed to: 1) ascertain the presence of Gb3 deposit
Externí odkaz:
https://doaj.org/article/ffa3ab7f4802476980d29491895ea22c
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Fabry disease (FD) is an X-linked, lysosomal storage disorder caused by a mutation in the alpha galactosidase (GLA) gene leading to a deficiency in α-galactosidase A enzyme (α-Gal A) activity, which in turn results in accumulation of glycosphingoli
Externí odkaz:
https://doaj.org/article/e840ea156d90440caf9db98ad0750e2f
Autor:
Giovanni Duro, Carmela Zizzo, Giuseppe Cammarata, Alessandro Burlina, Alberto Burlina, Giulia Polo, Simone Scalia, Roberta Oliveri, Serafina Sciarrino, Daniele Francofonte, Riccardo Alessandro, Antonio Pisani, Giuseppe Palladino, Rosa Napoletano, Maurizio Tenuta, Daniele Masarone, Giuseppe Limongelli, Eleonora Riccio, Andrea Frustaci, Cristina Chimenti, Claudio Ferri, Federico Pieruzzi, Maurizio Pieroni, Marco Spada, Cinzia Castana, Marina Caserta, Ines Monte, Margherita Stefania Rodolico, Sandro Feriozzi, Yuri Battaglia, Luisa Amico, Maria Angela Losi, Camillo Autore, Marco Lombardi, Carmine Zoccali, Alessandra Testa, Maurizio Postorino, Renzo Mignani, Elisabetta Zachara, Antonello Giordano, Paolo Colomba
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 12, p 3726 (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). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosid
Externí odkaz:
https://doaj.org/article/ffce201584f64d689a7908d067fff010
Autor:
Juan Politei, Andrea Beatriz Schenone, Alessandro Burlina, Mariana Blanco, Sebastian Lescano, Marina Szlago, Gustavo Cabrera
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 2 (2014)
Introduction: Fabry disease (FD) is a lysosomal storage disorder associated with marked cerebrovascular involvement. Conventional magnetic resonance imaging (MRI) shows different abnormalities, like white matter lesions that may already be present at
Externí odkaz:
https://doaj.org/article/812331f7f2ca4983827f87be45501da0
Autor:
Vincenza Gragnaniello, Daniela Gueraldi, Chiara Cazzorla, Andrea Puma, Anna Commone, Pamela Massa, Christian Loro, Alessandro Burlina, Alberto Burlina
Publikováno v:
Molecular Genetics and Metabolism. 138:107126
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77964a8b6a4dca472558b289ff522199
https://doi.org/10.1016/j.ymgme.2022.107126
https://doi.org/10.1016/j.ymgme.2022.107126
Autor:
Alberto Burlina, Vincenza Gragnaniello, Daniela Gueraldi, Chiara Cazzorla, Andrea Puma, Anna Commone, Pamela Massa, Christian Loro, Alessandro Burlina
Publikováno v:
Molecular Genetics and Metabolism. 138:107039
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::91e094cb4687ded1123c926136e4c1b1
https://doi.org/10.1016/j.ymgme.2022.107039
https://doi.org/10.1016/j.ymgme.2022.107039
Autor:
Tiziana Rosso, Emanuele Turinese, Mirco Albanese, Elvis Bernardi, Barbara Corte, Andrea Bedin, Alessandro Burlina
Publikováno v:
Clinical Neurophysiology. 141:S58
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::75760d6f0d60dde0c191dcc0fffa848b
https://doi.org/10.1016/j.clinph.2022.07.152
https://doi.org/10.1016/j.clinph.2022.07.152
Publikováno v:
Clinical Neurophysiology. 141:S182
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc00db243310f58342dd87baae7a69e2
https://doi.org/10.1016/j.clinph.2022.07.480
https://doi.org/10.1016/j.clinph.2022.07.480
Autor:
Paolo Passadore, Simona Carella, Marcello Naccarato, Giulia Sajeva, Alessio Pieroni, Sandro Zambito, Giulio Bozzato, Domenico Idone, Giampietro Zanette, Anna Maria Basile, Roberta Padoan, Federica Viaro, Adriana Critelli, Salvatore Lanzafame, Paola Caruso, Giampietro Ruzza, Morena Cadaldini, Giovanni Merlino, Manuel Cappellari, Bruno Giometto, Antonella De Boni, Michele Morra, Alessandro Campagnaro, Antonio Baldi, Matteo Atzori, Simone Tonello, Agnese Tonon, Simone Lorenzut, Martina Bruno, Roberto Bombardi, Elisabetta Menegazzo, Emanuele Turinese, Bruno Bonetti, Franco Ferracci, Francesco Paladin, M. Turazzini, Luca Zanet, Marco Simonetto, Alberto Polo, Bruno Marini, Elisa Corazza, Paolo Bovi, Monia Russo, Stefano Forlivesi, Silvia Vittoria Guidoni, Anna Gaudenzi, Valeria Bignamini, Roberto L’Erario, Maela Masato, Alessandro Burlina, Carmine Tamborino, Francesco Perini
It is not known whether the current territorial organization for acute revascularization treatments in ischemic stroke patients guarantees similar time to treatment and functional outcomes among different levels of institutional stroke care. We aimed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f871e1cd659aa2b29c090b1c9d0adb35
https://link.springer.com/article/10.1007/s11239-020-02142-3
https://link.springer.com/article/10.1007/s11239-020-02142-3
