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

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 dis...

Source: Orphanet Journal of Rare Diseases - April 13, 2024 Category: Internal Medicine Authors: Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo and Ruth Pulikottil-Jacob Tags: Research Source Type: research