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

Copyright © 2011 Wiley-Liss, Inc., A Wiley Company

Cover image for Vol. 160C Issue 1

Special Issue: Advancements in Pompe Disease

15 February 2012

Volume 160C, Issue 1

Pages 1–88

Issue edited by: Priya S. Kishnani, Nancy J. Mendelsohn, Alexandra A. Beckemeyer

  1. Introduction

    1. Top of page
    2. Introduction
    3. Articles
    1. You have free access to this content
      The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management (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

  2. Articles

    1. Top of page
    2. Introduction
    3. Articles
    1. You have free access to this content
      Newborn screening for Pompe disease: An update, 2011 (pages 8–12)

      Barbara K. Burton

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

    2. You have free access to this content
      Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten (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

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      Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long-term follow-up (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

    4. You have free access to this content
      The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease (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

    5. You have free access to this content
      Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience (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

    6. You have free access to this content
      Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques (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

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      The genotype–phenotype correlation in Pompe disease (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

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      Infantile Pompe disease on ERT—Update on clinical presentation, musculoskeletal management, and exercise considerations (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

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      Toward deconstructing the phenotype of late-onset Pompe disease (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

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