The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management
Newborn screening for Pompe disease: An update, 2011
Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten
Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long-term follow-up
The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience
Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques
The genotype–phenotype correlation in Pompe disease
Infantile Pompe disease on ERT—Update on clinical presentation, musculoskeletal management, and exercise considerations
Toward deconstructing the phenotype of late-onset Pompe disease