Search Results - Rossella Parini

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  1. 1
    Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

    Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations by Rossella Parini, Federica Deodato

    Published 2020
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  2. 2
    Enzyme replacement therapy: efficacy and limitations

    Enzyme replacement therapy: efficacy and limitations by Daniela Concolino, Federica Deodato, Rossella Parini

    Published 2018
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  3. 3
    The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

    The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS) by Rossella Parini, Simon Jones, Paul Harmatz, Roberto Giugliani, Nancy J. Mendelsohn

    Published 2016
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  4. 4
    The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

    The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS) by Simon Jones, Rossella Parini, Paul Harmatz, Roberto Giugliani, Juanzhi Fang, Nancy J. Mendelsohn

    Published 2013
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  5. 5
    Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

    Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) by Can Fıçıcıoğlu, Roberto Giugliani, Paul Harmatz, Nancy J. Mendelsohn, Virginie Jego, Rossella Parini

    Published 2017
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  6. 6
    The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

    The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS) by Rossella Parini, Simon W. Jones, Paul Harmatz, Roberto Giugliani, Juanzhi Fang, Nancy J. Mendelsohn

    Published 2013
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  7. 7
    Open issues in Mucopolysaccharidosis type I-Hurler

    Open issues in Mucopolysaccharidosis type I-Hurler by Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa

    Published 2017
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  8. 8
    <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 Age</p>

    <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... by Rossella Parini, Guillem Pintos‐Morell, Julia B. Hennermann, Ting‐Rong Hsu, Nesrin Karabul, Vasiliki Kalampoki, Andrey Gurevich, Uma Ramaswami

    Published 2020
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  9. 9
    Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase- A

    Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase- A by Giovanfrancesco Ferrari, Eleonora Lamantea, Alice Donati, Massimiliano Filosto, Egill Briem, Franco Carrara, Rossella Parini, Alessandro Simonati, René Santer, Massimo Zeviani

    Published 2005
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  10. 10
    Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa

    Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa by Derralynn Hughes, Roberto Giugliani, Nathalie Guffon, Simon Jones, Karl‐Eugen Mengel, Rossella Parini, Robert Matousek, Sara M. Hawley, Adrian Quartel

    Published 2017
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  11. 11
    Functional analysis of 11 novel GBA alleles

    Functional analysis of 11 novel GBA alleles by Erika Malini, Serena Grossi, Marta Deganuto, Camillo Rosano, Rossella Parini, Silvia Dominisini, Roberta Cariati, Stefania Zampieri, Bruno Bembi, Mirella Filocamo, Andrea Dardis

    Published 2013
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  12. 12
    Angiokeratoma: decision-making aid for the diagnosis of Fabry disease

    Angiokeratoma: decision-making aid for the diagnosis of Fabry disease by 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

    Published 2012
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  13. 13
    Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature

    Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature by 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

    Published 2010
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  14. 14
    Therapeutic goals in the treatment of Fabry disease

    Therapeutic goals in the treatment of Fabry disease by 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

    Published 2010
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  15. 15
    Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

    Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis by 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

    Published 2012
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  16. 16
    Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years

    Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years by 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

    Published 2014
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  17. 17
    The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

    The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) by 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

    Published 2017
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  18. 18
    Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

    Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy by 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

    Published 2012
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  19. 19
    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

    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 by 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

    Published 2017
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  20. 20
    Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial

    Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial by 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

    Published 2014
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