Fishman P H, Max S R, Tallman J F, Brady R O, Maclaren N K, Cornblath M
Science. 1975 Jan 10;187(4171):68-70. doi: 10.1126/science.803227.
An unusual lipid storage disese is chracterized by the accumulation of hematoside (Gms3) in the patient's liver and brain. In contrast to the other sphingoliidoses, the accumulation of Gm3 is not the result of a defective catabolic reaction, but is the first disorder caused by deficiency in ganglioside biosynthesis to be described in man.
一种罕见的脂质贮积病的特征是患者肝脏和大脑中血苷脂(Gm3)的蓄积。与其他鞘脂类贮积病不同,Gm3的蓄积并非分解代谢反应缺陷所致,而是人类中首次描述的由神经节苷脂生物合成缺陷引起的疾病。