doi: 10.1016/s0140-6736(78)90005-3.
X-linked ichthyosis due to steroid-sulphatase deficiency
- PMID: 74568
- DOI: 10.1016/s0140-6736(78)90005-3
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X-linked ichthyosis due to steroid-sulphatase deficiency
Lancet.
.
Abstract
An assay of cultured skin fibroblasts identified several individuals with 3 beta-hydroxysteroid-sulphate sulphatase deficiency. All patients with this inborn error of metabolism had clinically apparent ichthyosis and a family history of this skin disorder compatible with X-linked inheritance. It is concluded that steroid-sulphatase deficiency is the bio-chemical basis of at least some cases of X-linked ichthyosis.
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