Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience | European Journal of Human Genetics
IJNS | Free Full-Text | Newborn Screening for Pompe Disease
Pompe disease: pathogenesis, molecular genetics and diagnosis | Aging
Pompe disease symptoms | Pompe Disease News
A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting - IOS Press
Pompe disease diagnosis and management guideline - ScienceDirect
About Pompe Disease - United Pompe Foundation
Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT | PLOS ONE