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- W2003560512 abstract "An autopsy case of Sandhoff’s disease is reported. Although diagnosis of Tay-Sachs disease was made first because of the cherry red spot on the macula and a typical clinical course, enzyme assay demonstrated a total deficiency of hexosaminidase in the serum and diagnosis of Sandhoff’s disease was established. Histochemical examinations, especially by H & E with LFB staining, disclosed several new features of the disease. The neuronal lesions of the brain and myenteric plexuses resembled those found in Tay-Sachs disease. Accumulation of glycolipid was found in the reticuloendothelial system of the lymph nodes, spleen, and liver. The epithelial cells of the renal glomeruli also showed LFB-positive granules in the swollen cytoplasm. These findings were confirmed by electron microscopy. On the basis of evidences described herein, it was concluded that Sandhoff's disease is a systemic disorder and reveals more widespread accumulation of glycolipid than Tay-Sachs disease." @default.
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- W2003560512 date "1974-09-01" @default.
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- W2003560512 title "An Autopsy Case of Sandhoff–s Disease" @default.
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- W2003560512 doi "https://doi.org/10.1016/s0005-8165(74)80109-5" @default.
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