Steroid-sulfatase deficiency in sex-linked ichthyosis.
Steroid-sulfatase activity was absent in the cultured fibroblasts of nine affected members of eight families with sex-linked ichthyosis. An intermediate value of enzyme activity was found in an obligate heterozygote and a normal value in a patient with ichthyosis vulgaris. Cultured epidermal cells of an affected individual also had no enzyme activity, while normal cultured epidermal cells did.
5 references, click to expand
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X-linked ichthyosis and ichthyosis vulgaris. Clinical and genetic distinctions in a second series of families.JAMA. 1967 Nov 6;202(6):485-8 PMID: 6072316
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X-linked ichthyosis due to steroid-sulphatase deficiency.Lancet. 1978 Jan 14;1(8055):70-2 PMID: 74568
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Steroid sulfatase deficiency.Pediatr Res. 1977 Aug;11(8):894-7 PMID: 887310
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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding.Anal Biochem. 1976 May 7;72:248-54 PMID: 942051
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