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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249497/ https://www.ncbi.nlm.nih.gov/pubmed/30514648 http://dx.doi.org/10.1016/j.ymgme.2018.11.014 |