Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature
Mol Cell Pediatr. 2025 Nov 10;12(1):18. doi: 10.1186/s40348-025-00206-z. ABSTRACT BACKGROUND: Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A and B, is a …