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There are 10268 results for: content related to: Infantile Pompe disease on ERT—Update on clinical presentation, musculoskeletal management, and exercise considerations

  1. Consensus treatment recommendations for late-onset Pompe disease

    Muscle & Nerve

    Volume 45, Issue 3, March 2012, Pages: 319–333, Edward J. Cupler, Kenneth I. Berger, Robert T. Leshner, Gil I. Wolfe, Jay J. Han, Richard J. Barohn, John T. Kissel and of the AANEM CONSENSUS COMMITTEE ON LATE-ONSET POMPE DISEASE

    Version of Record online : 15 DEC 2011, DOI: 10.1002/mus.22329

  2. The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 1, 15 February 2012, Pages: 1–7, Priya S. Kishnani, Alexandra A. Beckemeyer and Nancy J. Mendelsohn

    Version of Record online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31324

  3. You have full text access to this OnlineOpen article
    Can stapedius reflex testing objectively measure muscle function in Pompe patients?

    Clinical Case Reports

    Volume 3, Issue 11, November 2015, Pages: 937–941, Max J. Hilz, Ulrich Hoppe, Sebastian Moeller, Ruihao Wang and Julia Koehn

    Version of Record online : 28 SEP 2015, DOI: 10.1002/ccr3.400

  4. Longitudinal polysomnographic findings in infantile Pompe disease

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 858–861, Sujay Kansagra, Stephanie Austin, Stephanie DeArmey, Zoheb Kazi, Richard M Kravitz and Priya S Kishnani

    Version of Record online : 23 FEB 2015, DOI: 10.1002/ajmg.a.37007

  5. Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease

    The Journal of Gene Medicine

    Volume 12, Issue 11, November 2010, Pages: 881–891, Baodong Sun, Songtao Li, Andrew Bird, Haiqing Yi, Alex Kemper, Beth L. Thurberg and Dwight D. Koeberl

    Version of Record online : 22 OCT 2010, DOI: 10.1002/jgm.1511

  6. Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long-term follow-up

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 1, 15 February 2012, Pages: 22–29, Gail A. Spiridigliozzi, James H. Heller and Priya S. Kishnani

    Version of Record online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31323

  7. The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 1, 15 February 2012, Pages: 30–39, Emanuela Lacaná, Lynne P. Yao, Anne R. Pariser and Amy S. Rosenberg

    Version of Record online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31316

  8. SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france

    Muscle & Nerve

    Volume 51, Issue 6, June 2015, Pages: 884–889, Andoni Echaniz-Laguna, Robert-Yves Carlier, Kenza Laloui, Pierre Carlier, Emmanuelle Salort-Campana, Jean Pouget and Pascal Laforet

    Version of Record online : 2 APR 2015, DOI: 10.1002/mus.24653

  9. Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 1, 15 February 2012, Pages: 50–58, Sarah P. Young, Monique Piraud, Jennifer L. Goldstein, Haoyue Zhang, Catherine Rehder, Pascal Laforet, Priya S. Kishnani, David S. Millington, Mustafa R. Bashir and Deeksha S. Bali

    Version of Record online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31320

  10. Timing of diagnosis of patients with pompe disease: Data from the pompe registry

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2431–2443, Priya S. Kishnani, Hernán M. Amartino, Christopher Lindberg, Timothy M. Miller, Amanda Wilson, Joan Keutzer and on behalf of the Pompe Registry Boards of Advisors

    Version of Record online : 30 AUG 2013, DOI: 10.1002/ajmg.a.36110

  11. You have free access to this content
    New insights into therapeutic options for Pompe disease

    IUBMB Life

    Volume 63, Issue 11, November 2011, Pages: 979–986, Emmanuel Richard, Gaëlle Douillard-Guilloux and Catherine Caillaud

    Version of Record online : 14 OCT 2011, DOI: 10.1002/iub.529

  12. A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 54–61, Chia-Feng Yang, Hao-Chuan Liu, Ting-Rong Hsu, Fang-Chih Tsai, Sheng-Fong Chiang, Chuan-Chi Chiang, Hui-Chen Ho, Chih-Jou Lai, Tsui-Feng Yang, Sung-Yin Chuang, Ching-Yuang Lin and Dau-Ming Niu

    Version of Record online : 15 NOV 2013, DOI: 10.1002/ajmg.a.36197

  13. Pompe disease, the must-not-miss diagnosis: A report of 3 patients

    Muscle & Nerve

    Volume 47, Issue 4, April 2013, Pages: 594–600, Alberto Dubrovsky, Jose Corderi, Theodora Karasarides and Ana Lia Taratuto

    Version of Record online : 5 MAR 2013, DOI: 10.1002/mus.23643

  14. Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression

    The Journal of Gene Medicine

    Volume 11, Issue 10, October 2009, Pages: 913–920, Baodong Sun, Haoyue Zhang, Andrew Bird, Songtao Li, Sarah P. Young and Dwight D. Koeberl

    Version of Record online : 20 JUL 2009, DOI: 10.1002/jgm.1372

  15. You have full text access to this OnlineOpen article
    Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

    EMBO Molecular Medicine

    Volume 1, Issue 5, August 2009, Pages: 268–279, Giancarlo Parenti

    Version of Record online : 5 AUG 2009, DOI: 10.1002/emmm.200900036

  16. You have full text access to this Open Access content
    Oral delivery of Acid Alpha Glucosidase epitopes expressed in plant chloroplasts suppresses antibody formation in treatment of Pompe mice

    Plant Biotechnology Journal

    Volume 13, Issue 8, October 2015, Pages: 1023–1032, Jin Su, Alexandra Sherman, Phillip A. Doerfler, Barry J. Byrne, Roland W. Herzog and Henry Daniell

    Version of Record online : 5 JUN 2015, DOI: 10.1111/pbi.12413

  17. Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of α-glucosidase in Pompe disease

    The Journal of Gene Medicine

    Volume 11, Issue 4, April 2009, Pages: 279–287, Gaëlle Douillard-Guilloux, Emmanuel Richard, Lionel Batista and Catherine Caillaud

    Version of Record online : 4 MAR 2009, DOI: 10.1002/jgm.1305

  18. You have free access to this content
    Enzyme replacement therapy for infantile-onset Pompe disease

    Intervention Protocol

    The Cochrane Library

    Min Chen, Lingli Zhang and Yi Liang

    Published Online : 13 MAR 2015, DOI: 10.1002/14651858.CD011539

  19. Fibromyalgia-like symptoms associated with irritable bowel syndrome: A challenging diagnosis of late-onset Pompe disease

    Muscle & Nerve

    Volume 52, Issue 2, August 2015, Pages: 300–304, Aude Gesquière-Dando, Shahram Attarian, André Maues De Paula, Jean Pouget and Emmanuelle Salort-Campana

    Version of Record online : 18 JUN 2015, DOI: 10.1002/mus.24618

  20. Correcting Neuromuscular Deficits With Gene Therapy in Pompe Disease

    Annals of Neurology

    Volume 78, Issue 2, August 2015, Pages: 222–234, Adrian G. Todd, Jessica A. McElroy, Robert W. Grange, David D. Fuller, Glenn A. Walter, Barry J. Byrne and Darin J. Falk

    Version of Record online : 30 JUN 2015, DOI: 10.1002/ana.24433