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Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

10 May 2021

Abstract excerpt

Abstract Background Acid sphingomyelinase deficiency (ASMD) (also known as Niemann-Pick disease types A and B) is a rare and debilitating lysosomal storage disorder. This prospective, multi-center, multinational longitudinal study aimed to characterize the clinical features of chronic forms of ASMD and disease burden over time in children and adults. Results Fifty-nine patients (31 males/28 females) ranging in...

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PMID: 33971920
DOI: 10.1186/s13023-021-01842-0

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