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There are 33085 results for: content related to: Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long-term follow-up

  1. 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

  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. 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

  4. 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

    Article first published online : 2 OCT 2013, DOI: 10.1002/ajmg.a.36227

  5. 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

    Article first published online : 14 JAN 2013, DOI: 10.1002/ajmg.a.35668

  6. 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

  7. 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

  8. 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

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31319

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. Toward deconstructing the phenotype of late-onset Pompe disease

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

    Volume 160C, Issue 1, 15 February 2012, Pages: 80–88, Angela Schüller, Stephan Wenninger, Nicola Strigl-Pill and Benedikt Schoser

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31322

  15. Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease

    Muscle & Nerve

    Volume 37, Issue 2, February 2008, Pages: 251–255, Maarten R. Drost, Gert Schaart, Paul van Dijk, Carine I. van Capelle, Ger J. van Der Vusse, Tammo Delhaas, Ans T. van Der Ploeg and Arnold J. J. Reuser

    Article first published online : 25 SEP 2007, DOI: 10.1002/mus.20896

  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

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

  17. You have full text access to this OnlineOpen article
    Cardiac involvement in adults with Pompe disease

    Journal of Internal Medicine

    Volume 264, Issue 4, October 2008, Pages: 333–339, O. I. I. Soliman, N. A. M. E. Van Der Beek, P. A. Van Doorn, W. B. Vletter, A. Nemes, B. M. Van Dalen, F. J. Ten Cate, A. T. Van Der Ploeg and M. L. Geleijnse

    Article first published online : 4 APR 2008, DOI: 10.1111/j.1365-2796.2008.01966.x

  18. 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

  19. 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

  20. Basilar artery aneurysm: A new finding in classic infantile pompe disease

    Muscle & Nerve

    Volume 47, Issue 4, April 2013, Pages: 613–615, Trusha T. Patel, Suhrad G. Banugaria, Donald P. Frush, David S. Enterline, Pranoot Tanpaiboon and Priya S. Kishnani

    Article first published online : 10 FEB 2013, DOI: 10.1002/mus.23659