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There are 5237 results for: content related to: Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

  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. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. Response to the letter “How to describe the clinical spectrum in Pompe disease?”

    American Journal of Medical Genetics Part A

    Volume 161, Issue 2, February 2013, Pages: 401–402, Alexandra A. Beckemeyer, Nancy J. Mendelsohn and Priya S. Kishnani

    Version of Record online : 14 JAN 2013, DOI: 10.1002/ajmg.a.35668

  9. 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

  10. 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

  11. Newborn screening for Pompe disease: An update, 2011

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

    Volume 160C, Issue 1, 15 February 2012, Pages: 8–12, Barbara K. Burton

    Version of Record online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31315

  12. Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience

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

    Volume 160C, Issue 1, 15 February 2012, Pages: 40–49, Deeksha S. Bali, Jennifer L. Goldstein, Suhrad Banugaria, Jian Dai, Joanne Mackey, Catherine Rehder and Priya S. Kishnani

    Version of Record online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31319

  13. 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

  14. Pompe Disease

    Lysosomal Storage Disorders: A Practical Guide

    Arnold J.J. Reuser, Ans T. van der Ploeg, Pages: 101–106, 2012

    Published Online : 15 NOV 2012, DOI: 10.1002/9781118514672.ch13

  15. Waiving informed consent in newborn screening research: Balancing social value and respect

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

    Volume 148C, Issue 1, 15 February 2008, Pages: 23–30, Beth A. Tarini, Wylie Burke, C. Ronald Scott and Benjamin S. Wilfond

    Version of Record online : 15 JAN 2008, DOI: 10.1002/ajmg.c.30164

  16. You have full text access to this OnlineOpen article
    Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

    EMBO Molecular Medicine

    Volume 5, Issue 5, May 2013, Pages: 691–706, Carmine Spampanato, Erin Feeney, Lishu Li, Monica Cardone, Jeong-A Lim, Fabio Annunziata, Hossein Zare, Roman Polishchuk, Rosa Puertollano, Giancarlo Parenti, Andrea Ballabio and Nina Raben

    Version of Record online : 18 APR 2013, DOI: 10.1002/emmm.201202176

  17. 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

  18. 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

  19. Polysomnographic findings in infantile Pompe disease

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3196–3200, Sujay Kansagra, Stephanie Austin, Stephanie DeArmey, Priya S. Kishnani and Richard M. Kravitz

    Version of Record online : 2 OCT 2013, DOI: 10.1002/ajmg.a.36227

  20. 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