X-LINKED ICHTHYOSIS DUE TO STEROID-SULPHATASE DEFICIENCY

Larry J. Shapiro; Roberta Weiss; Dianne Webster; John T. France

doi:10.1016/S0140-6736(78)90005-3

X-LINKED ICHTHYOSIS DUE TO STEROID-SULPHATASE DEFICIENCY

Larry J. Shapiro, Roberta Weiss, Dianne Webster, John T. France

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Abstract

An assay of cultured skin fibroblasts identified several individuals with 3β-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.

Original language	English
Pages (from-to)	70-72
Number of pages	3
Journal	The Lancet
Volume	311
Issue number	8055
DOIs	https://doi.org/10.1016/S0140-6736(78)90005-3
State	Published - Jan 14 1978

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title = "X-LINKED ICHTHYOSIS DUE TO STEROID-SULPHATASE DEFICIENCY",

abstract = "An assay of cultured skin fibroblasts identified several individuals with 3β-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.",

author = "Shapiro, {Larry J.} and Roberta Weiss and Dianne Webster and France, {John T.}",

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T1 - X-LINKED ICHTHYOSIS DUE TO STEROID-SULPHATASE DEFICIENCY

AU - Shapiro, Larry J.

AU - Weiss, Roberta

AU - Webster, Dianne

AU - France, John T.

PY - 1978/1/14

Y1 - 1978/1/14

N2 - An assay of cultured skin fibroblasts identified several individuals with 3β-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.

AB - An assay of cultured skin fibroblasts identified several individuals with 3β-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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U2 - 10.1016/S0140-6736(78)90005-3

DO - 10.1016/S0140-6736(78)90005-3

M3 - Article

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AN - SCOPUS:84919585371

SN - 0140-6736

VL - 311

SP - 70

EP - 72

JO - The Lancet

JF - The Lancet

IS - 8055

ER -

X-LINKED ICHTHYOSIS DUE TO STEROID-SULPHATASE DEFICIENCY

Abstract

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