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单词 Sphingomyelin lipidosis
释义

Sphingomyelin lipidosis

英语百科

Niemann–Pick disease

Niemann–Pick disease has an autosomal recessive pattern of inheritance.
Niemann pick cell in spleen

Niemann–Pick disease (/nmənˈpɪk/ nee-mən-PIK) is a group of inherited severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.

The prognosis is individual but the severe form is fatal in toddlerhood and the milder forms may even in some cases have a normal lifespan.

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