|1.||Mallidi, Padmaja V: 1 article (01/2014)|
|2.||Kujtan, Lara: 1 article (01/2014)|
|3.||Kelash, Fnu: 1 article (01/2014)|
|1.||Fabry Disease (Fabry's Disease)
09/04/1970 - "Thus, periodic replacement of ceramide trihexosidase activity in the plasma of patients with Fabry's disease might lead to consistently lower amounts of substrate in the plasma and a decrease in its rate of accumulation in tissues."
09/04/1970 - "Two patients with Fabry's disease were infused with normal plasma to provide active enzyme (ceramide trihexosidase) for hydrolysis of the plasma substrate, galactosylgalactosylglucosylceramide. "
01/01/1969 - "[Absent renal ceramide-trihexosidase activity in Fabry's disease]."
01/01/2014 - "Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of a-galactosidase A (also known as ceramide trihexosidase) and resultant accumulation of globotriaosylceramide (Gb3) and related glycophospholipids. "