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There are 26521 results for: content related to: Response to the letter “How to describe the clinical spectrum 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. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. Altered activation of the tibialis anterior in individuals with Pompe disease: Implications for motor unit dysfunction

    Muscle & Nerve

    Volume 51, Issue 6, June 2015, Pages: 877–883, Manuela Corti, Barbara K. Smith, Darin J. Falk, Lee Ann Lawson, David D. Fuller, S.H. Subramony, Barry J. Byrne and Evangelos A. Christou

    Version of Record online : 24 APR 2015, DOI: 10.1002/mus.24444

  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. Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1161–1165, Marian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, Robert Pomponio, Ans Van der Ploeg, Dicky Halley, Arnold Reuser, GAA Database Consortium:, Persephone Augoustides-Savvopoulou, Margreet Ausems, Jose Barcena Llona, Juan Bautista Lorite, Nadine van der Beek, Luisa Bonafe, Mario Cuk, Marc D'Hooghe, Baziel Engelen, A. Farouk, K. Fumic, E. Garcia-Delgado, Andreas Herzog, J. Hurst, Simon Jones, M. H. Kariminejad, Aynur Küçükçongar, W. Lissens, Allan Lund, Danielle Majoor-Krakauer, Shingo Kumamoto, E. Maravi, Suely Marie, Eugen Mengel, Irene Mavridou, E. Munteis Olivas, H. Najmabadi, Toshika Okumiya, Stojan Peric, Eduard Paschke, Barbara Plecko, Wim Robberecht, Piraye Serdaroglu, Mohammad Shboul, Mojca Zerjav Tansek, A. Tarnutzer, Vidosava Rakocevic Stojanovic, Anna Tylki-Szymanska, Maria Venâncio and Kristof Verhoeven

    Version of Record online : 29 MAY 2012, DOI: 10.1002/humu.22108

  12. 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

  13. 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

  14. How to describe the clinical spectrum in Pompe disease?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 2, February 2013, Pages: 399–400, Deniz Güngör and Arnold J.J. Reuser

    Version of Record online : 8 JAN 2013, DOI: 10.1002/ajmg.a.35662

  15. Ventricular Fibrillation in a Patient with Pompe Disease: A Cautionary Tale

    Congenital Heart Disease

    Volume 6, Issue 4, July/August 2011, Pages: 397–401, Holly C. DeSena, Michael R. Brumund, Duane Superneau and Christopher S. Snyder

    Version of Record online : 10 MAR 2011, DOI: 10.1111/j.1747-0803.2010.00471.x

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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