Previous Issue|Next Issue
Export Citation(s)Download PDF(s)

Introduction

Full Access

The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management†

Priya S. Kishnani,  Alexandra A. Beckemeyer,  Nancy J. Mendelsohn, 
  • Pages: 1-7
  • First Published: 17 January 2012

Articles

Full Access

Newborn screening for Pompe disease: An update, 2011†

Barbara K. Burton, 
  • Pages: 8-12
  • First Published: 17 January 2012
Full Access

Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten†

Nina Raben,  Amanda Wong,  Evelyn Ralston,  Rachel Myerowitz, 
  • Pages: 13-21
  • First Published: 17 January 2012
Full Access

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

Gail A. Spiridigliozzi,  James H. Heller,  Priya S. Kishnani, 
  • Pages: 22-29
  • First Published: 17 January 2012
Full Access

The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease†‡§

Emanuela Lacaná,  Lynne P. Yao,  Anne R. Pariser,  Amy S. Rosenberg, 
  • Pages: 30-39
  • First Published: 17 January 2012
Full Access

Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience†

Deeksha S. Bali,  Jennifer L. Goldstein,  Suhrad Banugaria,  Jian Dai,  Joanne Mackey,  Catherine Rehder,  Priya S. Kishnani, 
  • Pages: 40-49
  • First Published: 17 January 2012
Full Access

Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques†

Sarah P. Young,  Monique Piraud,  Jennifer L. Goldstein,  Haoyue Zhang,  Catherine Rehder,  Pascal Laforet,  Priya S. Kishnani,  David S. Millington,  Mustafa R. Bashir,  Deeksha S. Bali, 
  • Pages: 50-58
  • First Published: 17 January 2012
Full Access

The genotype–phenotype correlation in Pompe disease†‡

Marian Kroos,  Marianne Hoogeveen-Westerveld,  Ans van der Ploeg,  Arnold J.J. Reuser, 
  • Pages: 59-68
  • First Published: 17 January 2012
Full Access

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

Laura E. Case,  Alexandra A. Beckemeyer,  Priya S. Kishnani, 
  • Pages: 69-79
  • First Published: 17 January 2012
Full Access

Toward deconstructing the phenotype of late-onset Pompe disease†‡

Angela Schüller,  Stephan Wenninger,  Nicola Strigl-Pill,  Benedikt Schoser, 
  • Pages: 80-88
  • First Published: 17 January 2012