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PMID: 80684 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

Enzymatic basis of typical X-linked icthyosis.

Lancet (London, England) ·Vol. 2 ·No. 8093 ·1978-10-07 ·Pages 756-7

Shapiro LJ, Weiss R, Buxman MM, Vidgoff J, Dimond RL, Roller JA, Wells RS

Abstract

Steroid sulphatase activity was determined in cultured fibroblasts from 25 individuals with X-linked ichthyosis from four countries. All those with X-linked disease had markedly reduced enzyme levels compared with controls and patients with other types of ichthyosis. X-linked ichthyosis seems to be the result of a common mutation affecting the expression of steroid-sulphatase activity.

MeSH Terms

Adult Cells, Cultured Child Cholesterol Esters Female Fibroblasts/enzymology Humans Ichthyosis/enzymology,etiology,genetics Male Metabolism, Inborn Errors/enzymology,genetics Mutation Skin/enzymology,pathology Sulfatases/deficiency X Chromosome

Chemicals

Cholesterol Esters Sulfatases

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Shapiro L J

Weiss R

Buxman M M

Vidgoff J

Dimond R L

Roller J A

Wells R S

Article Info

Journal

Lancet (London, England)

Abbr.

Lancet

ISSN

0140-6736

DOI

10.1016/s0140-6736(78)92646-6

Published

1978-10-07

Pages

756-7

Language

English

Region

England

NLM ID

2985213R

Subset

External Links

PubMed source DOI: 10.1016/s0140-6736(78)92646-6 View journal details

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