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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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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
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| Assuntos: | |
| 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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