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There are 24022 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

    Article first published 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

    Article first published online : 12 SEP 2007, DOI: 10.1002/ajmg.a.31936

  3. 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

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31317

  4. 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

    Article first published online : 8 JAN 2013, DOI: 10.1002/ajmg.a.35662

  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

    Article first published online : 22 OCT 2010, DOI: 10.1002/jgm.1511

  6. 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

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31321

  7. You have free access to this content
    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

    Article first published online : 30 AUG 2013, DOI: 10.1002/ajmg.a.36110

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

    Muscle & Nerve

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

    Article first published online : 16 JUN 2009, DOI: 10.1002/mus.21393

  9. 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

    Article first published online : 15 JAN 2008, DOI: 10.1002/ajmg.c.30164

  10. 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

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31320

  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

    Article first published online : 29 MAY 2012, DOI: 10.1002/humu.22108

  12. 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

    Article first published online : 10 MAR 2011, DOI: 10.1111/j.1747-0803.2010.00471.x

  13. 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

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31324

  14. 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

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31318

  15. 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

    Article first published online : 18 APR 2013, DOI: 10.1002/emmm.201202176

  16. 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

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31316

  17. Johannes C. Pompe, MD, Hero of neuroscience: The man behind the syndrome

    Muscle & Nerve

    Volume 46, Issue 1, July 2012, Pages: 134–138, Lawrence A. Zeidman

    Article first published online : 12 JUN 2012, DOI: 10.1002/mus.23357

  18. 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

    Article first published online : 5 MAR 2013, DOI: 10.1002/mus.23643

  19. 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

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31323

  20. 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

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31315