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Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis
Science (New York, N.Y.)
|January 10, 1975
Abstract:
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.