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  • Title: [Microsomal sulfatase deficiency in X chromosome-linked ichthyosis].
    Author: Meyer JC, Schnyder UW.
    Journal: Hautarzt; 1982 Feb; 33(2):82-8. PubMed ID: 6951821.
    Abstract:
    The microsomal sulfatases are known to be deficient in the X-linked recessive inherited type of ichthyosis (XLI), which is closely related to the placental steroid-sulfatase deficiency. Our group demonstrated biochemically the deficiency of steroid-sulfatase activity as well as arylsulfatase C activity in cultured skin fibroblasts and leukocytes of patients with XLI, whereas all cases of ADI investigated hitherto expressed high activities of microsomal sulfatase. On the other hand, the analysis of microsomal sulfatase in membranous preparations of uncultivated skin and hair follicles failed to distinguish between XLI, ADI, and controls. Possible relations between this enzyme defect and the hyperkeratotic condition of XLI are discussed.
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