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

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 dise...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: McGovern, Margaret M., Wasserstein, Melissa P., Bembi, Bruno, Giugliani, Roberto, Mengel, K. Eugen, Vanier, Marie T., Zhang, Qi, Peterschmitt, M. Judith
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8111900/
https://ncbi.nlm.nih.gov/pubmed/33971920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01842-0
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