Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity
Genet Med Open. 2025 Oct 13;3:103465. doi: 10.1016/j.gimo.2025.103465. eCollection 2025. ABSTRACT PURPOSE: Alpha-mannosidosis is an ultrarare lysosomal storage disorder characterized by considerable diagnostic delays due …