
The nature of the metabolic defects in all of the major lipid storage diseases has been established within the past four years. This infromation has come primarily from extensive enzymologic studies in human tissues using labeled complex lipids as substrates. A brief description is presented of the background and experiments which led to the identification of the biochemical lesion in Gaucher's disease, Niemann-Pick disease, Fabry's disease, and Tay-Sachs disease.
Niemann-Pick Diseases, Gaucher Disease, Phosphoric Diester Hydrolases, Phosphotransferases, Brain, Fibroblasts, Ceramides, Lipidoses, Tritium, Sphingolipidoses, Sphingomyelins, Cerebrosides, Gangliosides, Leukocytes, Fabry Disease, Humans, Carbon Radioisotopes, Sulfatases, Cells, Cultured
Niemann-Pick Diseases, Gaucher Disease, Phosphoric Diester Hydrolases, Phosphotransferases, Brain, Fibroblasts, Ceramides, Lipidoses, Tritium, Sphingolipidoses, Sphingomyelins, Cerebrosides, Gangliosides, Leukocytes, Fabry Disease, Humans, Carbon Radioisotopes, Sulfatases, Cells, Cultured
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