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- W2000599050 abstract "Laboratory investigation of a patient diagnosed as ichthyosiform erythroderma bullosa revealed the following abnormalities: (1) alpha- and beta-galactosidases were elevated in the lesion. (2) alpha-mannosidase activity was extremely low both in the lesion and in relatively normal epidermis. (3) The mannose:glucose ratio of water-soluble hexose-containing material in the scales was very high. (4) Membrane-limited vacuoles, apparently enlarged secondary lysosomes, were observed. We conclude that this patients is the first documented example of a lysosomal storage disease in which overt clinical lesions are confined to the epidermis." @default.
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- W2000599050 date "1976-12-01" @default.
- W2000599050 modified "2023-09-26" @default.
- W2000599050 title "A lysosomal storage disorder of the epidermis characterized by a deficiency of α-mannosidase and an accumulation of mannose-rich materials" @default.
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- W2000599050 doi "https://doi.org/10.1111/j.1365-2133.1976.tb07035.x" @default.
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