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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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| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2018
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| 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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