Search Results

There are 24781 results for: content related to: Infantile Pompe disease on ERT—Update on clinical presentation, musculoskeletal management, and exercise considerations

  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. 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

  3. 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

  4. 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

  5. Longitudinal polysomnographic findings in infantile Pompe disease

    American Journal of Medical Genetics Part A

    Sujay Kansagra, Stephanie Austin, Stephanie DeArmey, Zoheb Kazi, Richard M Kravitz and Priya S Kishnani

    Article first published online : 23 FEB 2015, DOI: 10.1002/ajmg.a.37007

  6. 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

  7. 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

  8. 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

  9. 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

  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. 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

    Article first published online : 14 OCT 2011, DOI: 10.1002/iub.529

  13. 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

  14. Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression

    The Journal of Gene Medicine

    Volume 11, Issue 10, October 2009, Pages: 913–920, Baodong Sun, Haoyue Zhang, Andrew Bird, Songtao Li, Sarah P. Young and Dwight D. Koeberl

    Article first published online : 20 JUL 2009, DOI: 10.1002/jgm.1372

  15. 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

  16. 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

  17. Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series

    Pediatric Anesthesia

    Volume 17, Issue 8, August 2007, Pages: 738–748, LUKE Y.-J. WANG, ALLISON K. ROSS, JENNIFER S. LI, STEPHANIE M. DEARMEY, JOANNE F. MACKEY, MARYALICE WORDEN, DEYANIRA CORZO, CLAIRE MORGAN and PRIYA S. KISHNANI

    Article first published online : 18 APR 2007, DOI: 10.1111/j.1460-9592.2007.02215.x

  18. 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

    Article first published online : 15 NOV 2013, DOI: 10.1002/ajmg.a.36197

  19. A novel mutation of the GAA gene in a Finnish late-onset pompe disease patient: Clinical phenotype and follow-up with enzyme replacement therapy

    Muscle & Nerve

    Volume 40, Issue 1, July 2009, Pages: 143–148, Mari P. Korpela, Anders Paetau, Mervi I. Löfberg, Marjut H. Timonen, Antti E. Lamminen and Sari M.K. Kiuru-Enari

    Article first published online : 26 MAY 2009, DOI: 10.1002/mus.21291

  20. 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