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Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)
BACKGROUND: Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, results from mutations in SMPD1, the gene encoding acid sphingomyelinase (ASM). As a result, sphingomyelin accumulates in multiple organs including spleen, liver, lung, bone marrow, lymph nodes, and in the most se...
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| Publicado no: | Mol Genet Metab |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7249497/ https://ncbi.nlm.nih.gov/pubmed/30514648 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.11.014 |
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