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  • Title: [Ultrastructure of skin fibroblasts in storage diseases (mucopolysaccharidosis types IV and VI)].
    Author: Bruskina VIa, Barer FS, Pavlova MN, Meerson EM.
    Journal: Tsitol Genet; 1980; 14(5):21-6. PubMed ID: 6776669.
    Abstract:
    Ultrastructure of skin fibroblasts was studied in patients with mucopolysaccharidoses of types IV and VI and their relatives. In MPS VI and keratan-nonexcreting form of MPS IV the cytoplasm of fibroblasts contained numerous vacuoles with material of various electron density. The ultrastructure of cell did not differ from the norm in the keratan-excreting form of MPS IV. Skin fibroblasts from parents and siblings with MPS VI were found to contain a large number of residue bodies. The possible usage of ultrastructural data for early diagnosis of MPS and in medical genetic consultation of families of the patients with MPS is discussed.
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