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- W1854851968 abstract "Analyses have been made of glycosphingolipids from visceral organs and brain of a patient with an unusual lipid storage disorder diagnosed initially as classical Tay-Sachs disease. Levels of the lipids from fresh-frozen sections of gray and white matter, kidney, spleen, liver, and heart from this patient were compared with those of normal juvenile controls, and the fatty acid composition of accumulated glycosphingolipids was compared with reference compounds. This patient was found to have abnormally high concentrations of a globoside in liver, kidney, and spleen, asialo GM2 ganglioside in brain and liver, and GM2 ganglioside in the brain. On the basis of these findings along with the clinical manifestations of Tay-Sachs disease with visceral involvement (hepatosplenomegaly) and demonstration of total deficiency of both A and B components of β-N-acetylhexosaminidase activity, this glycosphingolipidosis is the same as two previously reported cases of GM2 gangliosidosis with globoside accumulation and total β-N-acetylhexosaminidase deficiency." @default.
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- W1854851968 date "1972-01-01" @default.
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- W1854851968 title "Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain" @default.
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- W1854851968 doi "https://doi.org/10.1016/s0022-2275(20)39446-3" @default.
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