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 en:Mol Genet Metab
Autores principales: Wasserstein, Melissa, Dionisi-Vici, Carlo, Giugliani, Roberto, Hwu, Wuh-Liang, Lidove, Olivier, Lukacs, Zoltan, Mengel, Eugen, Mistry, Pramod K., Schuchman, Edward H., McGovern, Margaret
Formato: Artigo
Lenguaje:Inglês
Publicado: 2018
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Article
Acceso en línea: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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