Search Results - Nathalie Guffon

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  1. 1
    Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges

    Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges by Christine Vianey‐Saban, Nathalie Guffon, Alain Fouilhoux, Cécile Acquaviva

    Published 2023
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  2. 2
    Bone Marrow Transplantation in Children with Hunter Syndrome: Outcome after 7 to 17 Years

    Bone Marrow Transplantation in Children with Hunter Syndrome: Outcome after 7 to 17 Years by Nathalie Guffon, Yves Bertrand, Isabelle Forest, Alain Fouilhoux, Roseline Froissart

    Published 2009
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  3. 3
    Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study

    Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study by Nathalie Guffon, Bénédicte Héron, B. Chabrol, François Feillet, V. Montauban, Vassili Valayannopoulos

    Published 2015
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  4. 4
    Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

    Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome) by Adrian Quartel, Paul Harmatz, Christina Lampe, Nathalie Guffon, David Ketteridge, Elisa Leão Teles, Simon Jones, Roberto Giugliani

    Published 2018
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  5. 5
    Orthopedic manifestations in patients with muco­polysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey

    Orthopedic manifestations in patients with muco­polysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey by Bianca Link, Louise Lapagesse de Camargo Pinto, Roberto Giugliani, J. E. Wraith, Nathalie Guffon, Elke Eich, Michael Beck

    Published 2010
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  6. 6
    Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)

    Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT) by Nathalie Guffon, Magali Pettazzoni, Nicolas Pangaud, C. Garin, Geneviève Lina‐Granade, C. Plault, C. Mottolèse, Roseline Froissart, A. Fouilhoux

    Published 2021
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  7. 7
    Long-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry Disease

    Long-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry Disease by William R. Wilcox, Maryam Banikazemi, Nathalie Guffon, Stephen Waldek, Philip Lee, Gabor E. Linthorst, Robert J. Desnick, Dominique P. Germain

    Published 2004
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  8. 8
    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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  9. 9
    Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis

    Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis by Paul Harmatz, Federica Cattaneo, Diego Ardigò, Silvia Geraci, Julia B. Hennermann, Nathalie Guffon, Allan M. Lund, Christian J. Hendriksz, Line Borgwardt

    Published 2018
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  10. 10
    Long‐term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study

    Long‐term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study by Nathalie Guffon, Vassiliki Konstantopoulou, Julia B. Hennermann, Nicole Muschol, Irene Bruno, Albina Tummolo, Ferdinando Ceravolo, Giulia Zardi, Andrea Ballabeni, Allan M. Lund

    Published 2023
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  11. 11
    Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease

    Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease by Christine M. Eng, Nathalie Guffon, William R. Wilcox, Dominique P. Germain, Philip Lee, Steve Waldek, Louis R. Caplan, Gabor E. Linthorst, Robert J. Desnick

    Published 2001
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  12. 12
    Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP)

    Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP) by Guirish A. Solanki, Peter P. Sun, Kenneth W. Martin, Christian J. Hendriksz, Christina Lampe, Nathalie Guffon, Annie Hung, Zlatko Sisic, Renée Shediac, Paul Harmatz

    Published 2016
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  13. 13
    Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome)—10‐year follow‐up of patients who previously participated in an MPS VI survey study

    Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome)—10‐year follow‐up of patients who previously participated in an MPS VI survey... by Roberto Giugliani, Christina Lampe, Nathalie Guffon, David Ketteridge, Elisa Leão Teles, J. E. Wraith, Simon Jones, Cheri Piscia‐Nichols, Ping Lin, Adrian Quartel, Paul Harmatz

    Published 2014
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  14. 14
    One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

    One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency by George A. Díaz, Simon Jones, Maurizio Scarpa, Eugen Mengel, Roberto Giugliani, Nathalie Guffon, Isabela Batsu, Patricia A. Fraser, Jing Li, Qi Zhang, Catherine Ortemann‐Renon

    Published 2021
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  15. 15
    P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFICIENCY

    P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFIC... by Jesús Villarrubia, Jaya Ganesh, Roberto Giugliani, Nathalie Guffon, Eugen Mengel, Maurizio Scarpa, Melissa Wasserstein, Nicole M. Armstrong, Gasparic Maja, Yong Kim, Holly Wong, Abhimanyu Yarramaneni

    Published 2023
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  16. 16
    Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

    Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy by J. E. Wraith, Maurizio Scarpa, Michael Beck, Olaf A. Bodamer, Linda De Meırleır, Nathalie Guffon, Allan M. Lund, Gunilla Malm, Ans T. van der Ploeg, J Zeman

    Published 2007
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  17. 17
    Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study

    Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study by Eugen Mengel, Maurizio Scarpa, Nathalie Guffon, Simon Jones, V. Goriya, Jérôme Msihid, Valérie Dyevre, Carly A. Rodriguez, Maja Gašparić, Lubomyra Nalysnyk, Fernando Laredo, Ruth Pulikottil-Jacob

    Published 2024
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  18. 18
    LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

    LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease by Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T. Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P. Germain, Thierry Levade, Christine Vianey‐Saban, Monique Piraud, David Cheillan

    Published 2017
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  19. 19
    Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

    Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry by Lorne A. Clarke, Roberto Giugliani, Nathalie Guffon, Simon Jones, Hillary A. Keenan, María Verónica Muñoz‐Rojas, Torayuki Okuyama, David Viskochil, Chester B. Whitley, Frits A. Wijburg, Joseph Muenzer

    Published 2019
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  20. 20
    Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase β Therapy in Patients with Fabry Disease

    Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase β Therapy in Patients with Fabry Disease by Dominique P. Germain, Stephen Waldek, Maryam Banikazemi, David A. Bushinsky, Joel Charrow, Robert J. Desnick, Philip Lee, Thomas Loew, Anouk C. Vedder, Rekha Abichandani, William R. Wilcox, Nathalie Guffon

    Published 2007
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