Kết quả tìm kiếm - Rossella Parini
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Enzyme replacement therapy: efficacy and limitations Bằng Daniela Concolino, Federica Deodato, Rossella Parini
Được phát hành 2018Revisão -
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Open issues in Mucopolysaccharidosis type I-Hurler Bằng Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa
Được phát hành 2017Revisão -
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<p>Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Ag... Bằng Rossella Parini, Guillem Pintos‐Morell, Julia B. Hennermann, Ting‐Rong Hsu, Nesrin Karabul, Vasiliki Kalampoki, Andrey Gurevich, Uma Ramaswami
Được phát hành 2020Artigo -
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Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase- A Bằng Giovanfrancesco Ferrari, Eleonora Lamantea, Alice Donati, Massimiliano Filosto, Egill Briem, Franco Carrara, Rossella Parini, Alessandro Simonati, René Santer, Massimo Zeviani
Được phát hành 2005Artigo -
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Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa Bằng Derralynn Hughes, Roberto Giugliani, Nathalie Guffon, Simon Jones, Karl‐Eugen Mengel, Rossella Parini, Robert Matousek, Sara M. Hawley, Adrian Quartel
Được phát hành 2017Artigo -
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Functional analysis of 11 novel GBA alleles Bằng Erika Malini, Serena Grossi, Marta Deganuto, Camillo Rosano, Rossella Parini, Silvia Dominisini, Roberta Cariati, Stefania Zampieri, Bruno Bembi, Mirella Filocamo, Andrea Dardis
Được phát hành 2013Artigo -
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Angiokeratoma: decision-making aid for the diagnosis of Fabry disease Bằng Anna Zampetti, Catherine H. Orteu, Daniela Antuzzi, Maria Rita Bongiorno, S. Manco, Maria Gnarra, Amelia Morrone, Giorgia Cardinali, Daniela Kovacs, Nicaela Aspite, Dennis Linder, Rossella Parini, Claudio Feliciani
Được phát hành 2012Revisão -
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Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature Bằng Olivier Lidove, Michael L. West, Guillem Pintos‐Morell, Ricardo Reisin, Kathy Nicholls, Luis E. Figuera, Rossella Parini, Luiz Roberto Carvalho, Christoph Kampmann, Gregory M. Pastores, Atul Mehta
Được phát hành 2010Revisão -
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Therapeutic goals in the treatment of Fabry disease Bằng Atul Mehta, Michael L. West, Guillem Pintos‐Morell, Ricardo Reisin, Kathy Nicholls, Luis E. Figuera, Rossella Parini, Luiz Roberto Carvalho, Christoph Kampmann, Gregory M. Pastores, Olivier Lidove
Được phát hành 2010Artigo -
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Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis Bằng Daniele Ghezzi, Enrico Baruffini, Tobias B. Haack, Federica Invernizzi, Laura Melchionda, Cristina Dallabona, Tim M. Strom, Rossella Parini, Alberto Burlina, Thomas Meitinger, Holger Prokisch, Ileana Ferrero, Massimo Zeviani
Được phát hành 2012Artigo -
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Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years Bằng Rosella Tomanin, Alessandra Zanetti, Francesca D’Avanzo, Angelica Rampazzo, Nicoletta Gasparotto, Rossella Parini, Antonia Pascarella, Daniela Concolino, Elena Procopio, Agata Fiumara, Andrea Borgo, Anna Chiara Frigo, Maurizio Scarpa
Được phát hành 2014Artigo -
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The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) Bằng Paul Harmatz, Christian J. Hendriksz, Christina Lampe, J. J. McGill, Rossella Parini, Elisa Leão Teles, Vassili Valayannopoulos, Tim Cole, Robert Matousek, S.C. Graham, Nathalie Guffon, Adrian Quartel
Được phát hành 2017Artigo -
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Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy Bằng Massimiliano Filosto, Mauro Scarpelli, Paola Tonin, Giovanna Lucchini, Fabio Pavan, Francesca Santus, Rossella Parini, Maria Alice Donati, Maria Sofia Cotelli, Valentina Vielmi, Alice Todeschini, Francesco Canonico, Giuliano Tomelleri, Alessandro Padovani, Attilio Rovelli
Được phát hành 2012Artigo -
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Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study Bằng Christian J. Hendriksz, Rossella Parini, Moeenaldeen AlSayed, Julian Raiman, Roberto Giugliani, John J. Mitchell, Barbara K. Burton, Norberto Guelbert, Fiona Stewart, Derralynn Hughes, Robert Matousek, Sara M. Hawley, Celeste Decker, Paul Harmatz
Được phát hành 2017Artigo -
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Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial Bằng Christian J. Hendriksz, Roberto Giugliani, Paul Harmatz, Eugen Mengel, Nathalie Guffon, Vassili Valayannopoulos, Rossella Parini, Derralynn Hughes, Gregory M. Pastores, Heather Lau, Moeenaldeen AlSayed, Julian Raiman, Kehu Yang, Matthew E. Mealiffe, Christine Haller
Được phát hành 2014Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Medicine
Internal medicine
Disease
Enzyme replacement therapy
Biology
Pediatrics
Gene
Genetics
Surgery
Intensive care medicine
Mutation
Hematopoietic stem cell transplantation
Pathology
Physical therapy
Transplantation
Biochemistry
Fabry disease
Cohort
Environmental health
Hurler syndrome
Mucopolysaccharidosis
Mucopolysaccharidosis type I
Nursing
Population
Quality of life (healthcare)
Clinical trial
Mitochondrial DNA
Alternative medicine
Cardiology
Clinical endpoint