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There are 6941 results for: content related to: The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease

  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. Sibling phenotype concordance in classical infantile Pompe disease

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 21, 1 November 2007, Pages: 2493–2501, Wendy E. Smith, Jennifer A. Sullivan-Saarela, Jennifer S. Li, Gerald F. Cox, Deyanira Corzo, Yuan-Tsong Chen and Priya S. Kishnani

    Version of Record online : 12 SEP 2007, DOI: 10.1002/ajmg.a.31936

  3. 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

  4. Diagnostic criteria for late-onset (childhood and adult) pompe disease

    Muscle & Nerve

    Volume 40, Issue 1, July 2009, Pages: 149–160,

    Version of Record online : 16 JUN 2009, DOI: 10.1002/mus.21393

  5. Infantile Pompe disease on ERT—Update on clinical presentation, musculoskeletal management, and exercise considerations

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

    Volume 160C, Issue 1, 15 February 2012, Pages: 69–79, Laura E. Case, Alexandra A. Beckemeyer and Priya S. Kishnani

    Version of Record online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31321

  6. 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

  7. 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

  8. Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series

    Pediatric Anesthesia

    Volume 17, Issue 8, August 2007, Pages: 738–748, LUKE Y.-J. WANG, ALLISON K. ROSS, JENNIFER S. LI, STEPHANIE M. DEARMEY, JOANNE F. MACKEY, MARYALICE WORDEN, DEYANIRA CORZO, CLAIRE MORGAN and PRIYA S. KISHNANI

    Version of Record online : 18 APR 2007, DOI: 10.1111/j.1460-9592.2007.02215.x

  9. 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

  10. Molecular analysis and protein processing in late-onset pompe disease patients with low levels of acid α-glucosidase activity

    Muscle & Nerve

    Volume 43, Issue 5, May 2011, Pages: 665–670, Deeksha S. Bali, Adviye A. Tolun, Jennifer L. Goldstein, Jian Dai and Priya S. Kishnani

    Version of Record online : 11 APR 2011, DOI: 10.1002/mus.21933

  11. 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

  12. 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

  13. 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

  14. 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

  15. The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

    Human Mutation

    Volume 30, Issue 12, December 2009, Pages: 1683–1692, John J. Flanagan, Barbara Rossi, Katherine Tang, Xiaoyang Wu, Kirsten Mascioli, Francesca Donaudy, Maria Rosaria Tuzzi, Federica Fontana, Maria Vittoria Cubellis, Caterina Porto, Elfrida Benjamin, David J. Lockhart, Kenneth J. Valenzano, Generoso Andria, Giancarlo Parenti and Hung V. Do

    Version of Record online : 4 SEP 2009, DOI: 10.1002/humu.21121

  16. The genotype–phenotype correlation in Pompe disease

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

    Volume 160C, Issue 1, 15 February 2012, Pages: 59–68, Marian Kroos, Marianne Hoogeveen-Westerveld, Ans van der Ploeg and Arnold J.J. Reuser

    Version of Record online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31318

  17. 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

  18. 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

  19. Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten

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

    Volume 160C, Issue 1, 15 February 2012, Pages: 13–21, Nina Raben, Amanda Wong, Evelyn Ralston and Rachel Myerowitz

    Version of Record online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31317

  20. 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