Vol 7, No 13 (July 2019): Annals of Translational Medicine (Focus on “Pompe Disease”)

Original Article

Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease
Jousef Alandy-dy, Marie Wencel, Kathy Hall, Julie Simon, Yanjun Chen, Erik Valenti, Jade Yang, Deeksha Bali, Anita Lakatos, Namita Goyal, Tahseen Mozaffar, Virginia Kimonis
Assessing metabolic profiles in human myoblasts from patients with late-onset Pompe disease
Peter Meinke, Sarah Limmer, Stefan Hintze, Benedikt Schoser

Review Article

Molecular genetics of Pompe disease: a comprehensive overview
Paolo Peruzzo, Eleonora Pavan, Andrea Dardis
Pros and cons of different ways to address dysfunctional autophagy in Pompe disease
Jeong-A Lim, Naresh Kumar Meena, Nina Raben
Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in Pompe disease
Gerben J. Schaaf, Rodrigo Canibano-Fraile, Tom J. M. van Gestel, Ans T. van der Ploeg, W. W. M. Pim Pijnappel
Newborn screening: Taiwanese experience
Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee
Nutrition and exercise in Pompe disease
Mark A. Tarnopolsky, Mats I. Nilsson
Long-term outcome and unmet needs in infantile-onset Pompe disease
Andreas Hahn, Anne Schänzer
Multisystem late onset Pompe disease (LOPD): an update on clinical aspects
Antonio Toscano, Carmelo Rodolico, Olimpia Musumeci
Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review
Ankit K. Desai, Cindy Li, Amy S. Rosenberg, Priya S. Kishnani
Diagnostic tools in late onset Pompe disease (LOPD)
Olimpia Musumeci, Antonio Toscano
Progress and challenges of gene therapy for Pompe disease
Giuseppe Ronzitti, Fanny Collaud, Pascal Laforet, Federico Mingozzi
Liver depot gene therapy for Pompe disease
Priya S. Kishnani, Dwight D. Koeberl
An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond
Aditi Korlimarla, Jeong-A Lim, Priya S. Kishnani, Baodong Sun
Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy
Barry J. Byrne, David D. Fuller, Barbara K. Smith, Nathalie Clement, Kirsten Coleman, Brian Cleaver, Lauren Vaught, Darin J. Falk, Angela McCall, Manuela Corti
Challenges in treating Pompe disease: an industry perspective
Hung V. Do, Richie Khanna, Russell Gotschall
Pompe disease: what are we missing?
Benedikt Schoser
The role of patient advocacy organizations in shaping medical research: the Pompe model
Tiffany House, Kevin O’Donnell, Raymond Saich, Fabio Di Pietro, Ria Broekgaarden, Allan Muir, Thomas Schaller