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- W2024104932 abstract "An 8-year-old girl developed a progressive neurological disease, characterized by minor seizures, gradual loss of vision leading to complete blindness, and ultimate dementia. She died at 16 years of age. At post-mortem virtually all neurons contained insoluble, autofluorescent, SBB-positive deposits. Similar deposits were present in many viscera. They were particularly abundant in skeletal muscle. By electron microscopy they appeared as granular osmiophilic deposits (GROD). The epithelial cells of the renal glomeruli contained lamellar inclusions in addition to the GROD. GROD and lipofuscin share many histochemical and ultrastructural features, but minor differences suggest that their chemical composition may differ. Chemical analysis of tissue from the patient failed to identify the nature of the GROD, principally because of their insolubility. This patient clinically conforms to the syndrome of juvenile cerebromacular degeneration. In these patients histochemical and ultrastructural examination of skin and skeletal muscle seems to be the most convenient method of making a precise pathological diagnosis at present." @default.
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- W2024104932 date "1973-01-01" @default.
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- W2024104932 title "A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits" @default.
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- W2024104932 doi "https://doi.org/10.1016/0022-510x(73)90021-x" @default.
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