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- W2156636280 abstract "A 1-week-old baby boy presented with hepatosplenomegaly, coarse facial features, and cloudy corneas. A metabolic storage disease was considered and he underwent cutaneous and liver biopsy. By light microscopy the skin was normal. Kupffer cells were enlarged and had foamy cytoplasm. Ultrastructural examination of skin and liver demonstrated features compatible with Farber's disease: curvilinear and banana bodies, zebra-like structures, and concentric lamellar bodies. A deficiency of lysosomal acid ceramidase was subsequently demonstrated in cultured fibroblasts and in liver tissue corroborating the ultrastructural findings." @default.
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- W2156636280 date "1987-01-01" @default.
- W2156636280 modified "2023-09-27" @default.
- W2156636280 title "Farber's Disease: A Fine Structural Study" @default.
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- W2156636280 doi "https://doi.org/10.3109/01913128709048433" @default.
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