Suchergebnisse - Joseph Muenzer

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  1. 1
    Overview of the mucopolysaccharidoses

    Overview of the mucopolysaccharidoses von Joseph Muenzer

    Veröffentlicht 2011
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  2. 2
    Early initiation of enzyme replacement therapy for the mucopolysaccharidoses

    Early initiation of enzyme replacement therapy for the mucopolysaccharidoses von Joseph Muenzer

    Veröffentlicht 2013
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  3. 3
    Plain language summary of a study looking at whether genetic testing can help doctors diagnose the severity of mucopolysaccharidosis type I (MPS I)

    Plain language summary of a study looking at whether genetic testing can help doctors diagnose the severity of mucopolysaccharidosis type I (MPS I) von Lorne A. Clarke, Roberto Giugliani, Joseph Muenzer

    Veröffentlicht 2023
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  4. 4
    Plain language summary of a study looking at the age at diagnosis and time to start of treatment in individuals with mucopolysaccharidosis type I (MPS I)

    Plain language summary of a study looking at the age at diagnosis and time to start of treatment in individuals with mucopolysaccharidosis type I (MPS I) von Roberto Giugliani, Nicole Muschol, Mark Dant, Joseph Muenzer

    Veröffentlicht 2022
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  5. 5
    Purification of proline-rich proteins from parotid glands of isoproterenol-treated rats.

    Purification of proline-rich proteins from parotid glands of isoproterenol-treated rats. von Joseph Muenzer, C Bildstein, Marie M. Gleason, Don M. Carlson

    Veröffentlicht 1979
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  6. 6
    Properties of proline-rich proteins from parotid glands of isoproterenol-treated rats.

    Properties of proline-rich proteins from parotid glands of isoproterenol-treated rats. von Joseph Muenzer, C Bildstein, Marie M. Gleason, Don M. Carlson

    Veröffentlicht 1979
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  7. 7
    Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I

    Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I von Roberto Giugliani, Nicole Muschol, Hillary A. Keenan, Mark Dant, Joseph Muenzer

    Veröffentlicht 2020
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  8. 8
    Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice

    Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice von Douglas M. McCarty, Julianne DiRosario, Kadra Gulaid, Joseph Muenzer, Haiyan Fu

    Veröffentlicht 2009
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  9. 9
    Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)

    Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS) von Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki‐Szymańska, Virginie Jego, Michael Beck

    Veröffentlicht 2017
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  10. 10
    Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)

    Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome... von Joseph Muenzer, Jaco Botha, Paul Harmatz, Roberto Giugliani, Christoph Kampmann, Barbara K. Burton

    Veröffentlicht 2021
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  11. 11
    Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries

    Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome... von Deborah Elstein, Roberto Giugliani, Joseph Muenzer, Jörn Schenk, Ida Vanessa Döederlein Schwartz, Christina Anagnostopoulou

    Veröffentlicht 2021
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  12. 12
    Initial report from the Hunter Outcome Survey

    Initial report from the Hunter Outcome Survey von J. E. Wraith, Michael Beck, Roberto Giugliani, Joe T.R. Clarke, Rick Martin, Joseph Muenzer

    Veröffentlicht 2008
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  13. 13
    The natural history of MPS I: global perspectives from the MPS I Registry

    The natural history of MPS I: global perspectives from the MPS I Registry von Michael Beck, Pamela Arn, Roberto Giugliani, Joseph Muenzer, Torayuki Okuyama, J. Michael Taylor, Shari Fallet

    Veröffentlicht 2014
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  14. 14
    Neurological Correction of Lysosomal Storage in a Mucopolysaccharidosis IIIB Mouse Model by Adeno-associated Virus-Mediated Gene Delivery

    Neurological Correction of Lysosomal Storage in a Mucopolysaccharidosis IIIB Mouse Model by Adeno-associated Virus-Mediated Gene Delivery von Haiyan Fu, R. Jude Samulski, Thomas J. McCown, Yoana J. Picornell, David Fletcher, Joseph Muenzer

    Veröffentlicht 2002
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  15. 15
    PO-0096 Clinical Effectiveness Of Idursulfase In Boys Aged 0–5 Years With Hunter Syndrome: 3-year Data From The Hunter Outcome Survey

    PO-0096 Clinical Effectiveness Of Idursulfase In Boys Aged 0–5 Years With Hunter Syndrome: 3-year Data From The Hunter Outcome Survey von Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Akemi Tanaka, A Anna Tylki-Szymanska, Isabelle Morin, Michael Beck

    Veröffentlicht 2014
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  16. 16
    Self-complementary adeno-associated virus serotype 2 vector: global distribution and broad dispersion of AAV-mediated transgene expression in mouse brain

    Self-complementary adeno-associated virus serotype 2 vector: global distribution and broad dispersion of AAV-mediated transgene expression in mouse brain von Haiyan Fu, Joseph Muenzer, R. Jude Samulski, George R. Breese, Jerillyn Sifford, Xinhua Zeng, Douglas M. McCarty

    Veröffentlicht 2003
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  17. 17
    Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey

    Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey von Joseph Muenzer, Michael Beck, Roberto Giugliani, Yasuyuki Suzuki, Anna Tylki‐Szymańska, Vassili Valayannopoulos, Ashok Vellodi, J. E. Wraith

    Veröffentlicht 2011
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  18. 18
    A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide

    A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide von Atul Mehta, Uma Ramaswami, Joseph Muenzer, Roberto Giugliani, Kurt Ullrich, Tanya Collin-Histed, Zoya Panahloo, Hartmann Wellhoefer, Joel Frader

    Veröffentlicht 2021
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  19. 19
    Safety and Feasibility of High-pressure Transvenous Limb Perfusion With 0.9% Saline in Human Muscular Dystrophy

    Safety and Feasibility of High-pressure Transvenous Limb Perfusion With 0.9% Saline in Human Muscular Dystrophy von Zheng Fan, Keith C. Kocis, Robert D. Valley, James F. Howard, Manisha Chopra, Hongyu An, Weili Lin, Joseph Muenzer, William J. Powers

    Veröffentlicht 2011
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  20. 20
    Absent Intestinal Response to Calciferols in Hereditary Resistance to 1,25-Dihydroxyvitamin D: Documentation and Effective Therapy With High Dose Intravenous Calcium Infusions*

    Absent Intestinal Response to Calciferols in Hereditary Resistance to 1,25-Dihydroxyvitamin D: Documentation and Effective Therapy With High Dose Intravenous Calcium Infusions* von Michael Bliziotes, Alfred L. Yergey, Mark S. Nanes, Joseph Muenzer, MARTIN G. BEGLEY, Nancy E. Vieira, Kanwal K. Kher, Maria Luisa Brandi, Stephen J. Marx

    Veröffentlicht 1988
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