一种以温度不稳定的鞘磷脂酶为特征的新型尼曼-匹克病。
A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase.
作者信息
Schneider E L, Pentchev P G, Hibbert S R, Sawitsky A, Brady R O
出版信息
J Med Genet. 1978 Oct;15(5):370-4. doi: 10.1136/jmg.15.5.370.
Abstract
A new type (F) of Niemann-Pick disease characterised by childhood onset of splenomegaly, lack of neurological involvement, and diminished sphingomyelinase activity is described. The clinical presentation and heat-labile sphingomyelinase activity of this type F Niemann-Pick disease distinguishes it from other types of Niemann-Pick disease.
摘要
本文描述了一种新型（F型）尼曼-匹克病，其特征为儿童期起病的脾肿大、无神经受累以及鞘磷脂酶活性降低。F型尼曼-匹克病的临床表现和热不稳定鞘磷脂酶活性使其有别于其他类型的尼曼-匹克病。
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