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There are 13352 results for: content related to: Newborn screening for Pompe disease: An update, 2011

  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. 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

  3. 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

  4. Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?

    American Journal of Medical Genetics Part A

    Volume 173, Issue 10, October 2017, Pages: 2628–2634, Paul McIntosh, Stephanie Austin, Jennifer Sullivan, Lauren Bailey, Carrie Bailey, David Viskochil and Priya S. Kishnani

    Version of Record online : 1 AUG 2017, DOI: 10.1002/ajmg.a.38369

  5. 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

  6. 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

  7. 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

  8. 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

  9. Enzyme replacement therapy for infantile-onset Pompe disease

    Intervention Review

    The Cochrane Library

    Min Chen, Lingli Zhang and Shuyan Quan

    Published Online : 20 NOV 2017, DOI: 10.1002/14651858.CD011539.pub2

  10. 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

  11. 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

  12. 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

  13. Ethical considerations of population screening for late-onset genetic disease

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 589–592, K. Golden-Grant, J.L. Merritt II and C.R. Scott

    Version of Record online : 15 MAR 2015, DOI: 10.1111/cge.12566

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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