Deficient Ganglioside Biosynthesis: A Novel Human Sphingolipidosis

作者：Peter H. Fishman, Stephen R. Max, John F. Tallman, Roscoe O. Brady, Noel Keith Maclaren, Marvin Cornblath · 发表于：Science · 年份：1975 · DOI：10.1126/science.803227 · 被引用次数：57 · 研究领域：Lysosomal Storage Disorders Research、Biochemical and Molecular Research、Glycogen Storage Diseases and Myoclonus

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.