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Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients

Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease caused by the deficiency of the enzyme acid sphingomyelinase (ASM) resulting in accumulation of sphingomyelin in target tissues. Little is known regarding predictors of disease-related morbidity...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Cox, Gerald F., Clarke, Lorne A., Giugliani, Roberto, McGovern, Margaret M.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6122055/
https://ncbi.nlm.nih.gov/pubmed/29995201
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_120
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