A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany

A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany

Abstract Background Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, potentially fatal lysosomal storage disease that exhibits a broad spectrum of clinical phenotypes. There is a need to expand the knowledge of disease mortality and morbidity in Germany because of limited information...

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Bibliographic Details
Main Authors: Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo, Ruth Pulikottil-Jacob
Format: Article
Language:English
Published: BMC 2024-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Acid sphingomyelinase deficiency
Morbidity
Mortality
Overall survival
Standardised mortality ratio
Online Access:https://doi.org/10.1186/s13023-024-03174-1

Internet

https://doi.org/10.1186/s13023-024-03174-1

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