X-linked recessive ichthyosis. Enzymatic diagnosis of affected males and female carriers
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- PMID: 2743959
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X-linked recessive ichthyosis. Enzymatic diagnosis of affected males and female carriers
Enzyme.
1989.
Abstract
Steroid sulfatase deficiency (SSD) is a sex-linked disorder characterized clinically by generalized X-linked ichthyosis. We report a study of 10 families where the clinical diagnosis of this disorder was confirmed by measuring arylsulfatase C and steroid sulfatase (STS) in cultured skin fibroblasts and/or leukocytes of patients and heterozygotes. The optimal conditions for these enzymatic determinations were determined. Our data indicate that STS measurement is a reliable test for SSD diagnosis, either in fibroblasts or in leukocytes. For the detection of heterozygotes, several enzymatic determinations in different cell types are required.
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