Giugliani, Roberto; Solomon, Faryn; Kushlaf, Hani; Wright, Erica; Haselkorn, Tmirah; Zanoteli, Edmar; Schoser, Benedikt (2025): Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review. Orphanet Journal of Rare Diseases, 20: 216. ISSN 1750-1172

Claeys, Kristl G.; Kushlaf, Hani; Raza, Syed; Hummel, Noemi; Shohet, Simon; Keyzor, Ian; Kopiec, Agnieszka; Graham, Ryan; Fox, Brian; Schoser, Benedikt (2024): Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease. Orphanet Journal of Rare Diseases, 19 (1). ISSN 1750-1172