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

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

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...

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Bibliographic Details
Main Authors: Margaret M. McGovern, Melissa P. Wasserstein, Bruno Bembi, Roberto Giugliani, K. Eugen Mengel, Marie T. Vanier, Qi Zhang, M. Judith Peterschmitt
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Niemann-Pick disease type B
Niemann-Pick disease type A/B
ASMD
Lysosomal storage disease
Natural history
Online Access:https://doi.org/10.1186/s13023-021-01842-0

Internet

https://doi.org/10.1186/s13023-021-01842-0

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