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- W2808639806 abstract "This study reports the occurrence of the lysosomal storage disease GM2 gangliosidosis (Sandhoff disease) in two 11-mo-old captive-bred, male and female mongoose siblings ( Mungos mungo). The clinical signs and the pathological findings reported here were similar to those reported in other mammalian species. Light microscopy revealed an accumulation of stored material in neurons and macrophages accompanied by a significant neuronal degeneration (swelling of neuronal soma, loss of Nissl substance, and neuronal loss) and gliosis. Electron microscopy of brain tissue identified the stored material as membrane-bound multilamellar bodies. An almost complete lack of total hexosaminidase activity in serum suggested a defect in the HEXB gene (Sandhoff disease in humans). High-performance thin-layer chromatography and mass spectrometry confirmed the accumulation of GM2 ganglioside in brain and kidney tissue, and the lectin staining pattern of the brain tissue further corroborated the diagnosis of a Sandhoff-type lysosomal storage disease." @default.
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- W2808639806 date "2018-06-01" @default.
- W2808639806 modified "2023-09-27" @default.
- W2808639806 title "THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS (MUNGOS MUNGO)" @default.
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- W2808639806 doi "https://doi.org/10.1638/2017-0199.1" @default.
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