ENZYMATIC BASIS OF TYPICAL X-LINKED ICHTHYOSIS

Larry J. Shapiro; Melodie M. Buxman; Roberta Weiss; Jaclyn Vidgoff; Robert L. Dimond; James A. Roller; R. S. Wells

doi:10.1016/S0140-6736(78)92646-6

ENZYMATIC BASIS OF TYPICAL X-LINKED ICHTHYOSIS

Larry J. Shapiro
, Melodie M. Buxman
, Roberta Weiss
, Jaclyn Vidgoff
, Robert L. Dimond
, James A. Roller
, R. S. Wells

Research output: Contribution to journal › Article › peer-review

129 Scopus citations

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.

Original language	English
Pages (from-to)	756-757
Number of pages	2
Journal	The Lancet
Volume	312
Issue number	8093
DOIs	https://doi.org/10.1016/S0140-6736(78)92646-6
State	Published - Oct 7 1978

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@article{350c6e20dd87457faf78e14e252b9ff9,

title = "ENZYMATIC BASIS OF TYPICAL X-LINKED ICHTHYOSIS",

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.",

author = "Shapiro, \{Larry J.\} and Buxman, \{Melodie M.\} and Roberta Weiss and Jaclyn Vidgoff and Dimond, \{Robert L.\} and Roller, \{James A.\} and Wells, \{R. S.\}",

note = "Funding Information: We thank Dr R. Gorlin, Dr G. Romeo, Dr P. MacLeod, and Dr C. R. Scott for providing samples from their patients and C. Hepburn and T. G. Wilson for technical assistance. This work was supported in part by grants no. 1-639 from the National Foundation-March of Dimes and HD 12178 from the National Institute of Child Health and Human Development. Requests for reprints should be addressed to L.J.S., Division of Medical Genetics, Harbor General Hospital, 1000 West Carson Street, Torrance, California 90509, U.S.A.",

year = "1978",

month = oct,

day = "7",

doi = "10.1016/S0140-6736(78)92646-6",

language = "English",

volume = "312",

pages = "756--757",

journal = "The Lancet",

issn = "0140-6736",

number = "8093",

}

TY - JOUR

T1 - ENZYMATIC BASIS OF TYPICAL X-LINKED ICHTHYOSIS

AU - Shapiro, Larry J.

AU - Buxman, Melodie M.

AU - Weiss, Roberta

AU - Vidgoff, Jaclyn

AU - Dimond, Robert L.

AU - Roller, James A.

AU - Wells, R. S.

N1 - Funding Information: We thank Dr R. Gorlin, Dr G. Romeo, Dr P. MacLeod, and Dr C. R. Scott for providing samples from their patients and C. Hepburn and T. G. Wilson for technical assistance. This work was supported in part by grants no. 1-639 from the National Foundation-March of Dimes and HD 12178 from the National Institute of Child Health and Human Development. Requests for reprints should be addressed to L.J.S., Division of Medical Genetics, Harbor General Hospital, 1000 West Carson Street, Torrance, California 90509, U.S.A.

PY - 1978/10/7

Y1 - 1978/10/7

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/0018124723

U2 - 10.1016/S0140-6736(78)92646-6

DO - 10.1016/S0140-6736(78)92646-6

M3 - Article

C2 - 80684

AN - SCOPUS:0018124723

SN - 0140-6736

VL - 312

SP - 756

EP - 757

JO - The Lancet

JF - The Lancet

IS - 8093

ER -

ENZYMATIC BASIS OF TYPICAL X-LINKED ICHTHYOSIS

Abstract

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