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- W2103742146 abstract "This paper reports the ultrastructural findings for the epidermis of biopsied skin specimens in numerous lysosomal diseases, which can be grouped as follows: a) presence of vacuolar lysosomal residual bodies in mucopolysaccharidoses I, II and III, Salla disease, GM1-gangliosidoses and infantile type II glycogenosis; b) avacuolar lysosomal residual bodies in Niemann-Pick disease type C, mucolipidosis IV, Farber disease, Fabry disease, and late infantile and juvenile neuronal ceroid-lipofuscinoses; c) absence of lysosomal residual bodies in GM2-gangliosidoses, metachromatic leukodystrophy, Gaucher disease and sialidosis type III. Whenever possible, a biopsy of the skin for morphological diagnosis of lysosomal disorders ought not to be confined to the epidermis." @default.
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- W2103742146 date "1989-01-01" @default.
- W2103742146 modified "2023-09-30" @default.
- W2103742146 title "Intraepidermal morphologic manifestations in lysosomal diseases" @default.
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- W2103742146 doi "https://doi.org/10.1016/s0387-7604(89)80065-8" @default.
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