Literature DB >> 74568

X-linked ichthyosis due to steroid-sulphatase deficiency.

D Webster, J T France, L J Shapiro, R Weiss.   

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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Year:  1978        PMID： 74568     DOI： 10.1016/s0140-6736(78)90005-3

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  68 in total

1.  Steroid-sulfatase deficiency in sex-linked ichthyosis.

Authors:  J Kubilus; A J Tarascio; H P Baden
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

Review 2.  Inherited ichthyoses/generalized Mendelian disorders of cornification.

Authors:  Matthias Schmuth; Verena Martinz; Andreas R Janecke; Christine Fauth; Anna Schossig; Johannes Zschocke; Robert Gruber
Journal:  Eur J Hum Genet       Date:  2012-06-27       Impact factor: 4.246

3.  Distribution of cholesterol sulfate and its anabolic and catabolic enzymes in various rabbit tissues.

Authors:  Y Cui; M Iwamori
Journal:  Lipids       Date:  1997-06       Impact factor: 1.880

4.  Partial lyonisation of steroid sulphatase gene in single hair roots.

Authors:  P J Willems; H W de Bruijn; A Groenhuis; B R Mooyaart; R Berger
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

Review 5.  Dehydroepiandrosterone (DHEA)-SO4 Depot and Castration-Resistant Prostate Cancer.

Authors:  Trevor M Penning
Journal:  Vitam Horm       Date:  2018-02-24       Impact factor: 3.421

6.  Placental steroid deficiency: association with arylsulfatase A deficiency.

Authors:  J Vidgoff; M M Buxman; L J Shapiro; R L Dimond; T G Wilson; C A Hepburn; T Tabei; W R Heinrichs
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

7.  Evidence for a dosage effect at the X-linked steroid sulfatase locus in human tissues.

Authors:  P F Chance; S M Gartler
Journal:  Am J Hum Genet       Date:  1983-03       Impact factor: 11.025

8.  Murine arylsulfatase C: evidence for two isozymes.

Authors:  K Nelson; B M Keinanen; W L Daniel
Journal:  Experientia       Date:  1983-07-15

9.  Cholesterol sulphate in the microsomal sulphatase deficient placenta.

Authors:  A Marinkovic-Ilsen; M L Williams
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

10.  Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome.

Authors:  T Mohandas; L J Shapiro; R S Sparkes; M C Sparkes
Journal:  Proc Natl Acad Sci U S A       Date:  1979-11       Impact factor: 11.205
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