A suspicion index tool to aid the diagnosis and treatment of ASMD

Abstract Background The diagnosis of acid sphingomyelinase deficiency (ASMD, Niemann Pick Type A, A/B, B) is frequently delayed by years, because of its heterogeneous and often unspecific clinical features. The involvement of multiple organs including the musculoskeletal and central nervous systems,...

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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	Anna-Maria Wiesinger, Georg Zimmermann, Wanda Lauth, Nicole Muschol, Dorothea Möslinger, Vassiliki Konstantopoulou, Sabine Scholl-Bürgi, Daniela Karall, Roberto Giugliani, Eugen Mengel, Elmar Aigner, Daniel Weghuber, Florian B. Lagler
Format:	Article
Language:	English
Published:	BMC 2026-03-01
Subjects:	Acid sphingomyelinase deficiency Diagnosis Suspicion index Risk prediction score Hepatosplenomegaly
Online Access:	https://doi.org/10.1186/s13023-026-04328-z