doi: 10.1016/s0140-6736(78)92646-6.
Enzymatic basis of typical X-linked icthyosis
- PMID: 80684
- DOI: 10.1016/s0140-6736(78)92646-6
Item in Clipboard
Enzymatic basis of typical X-linked icthyosis
Lancet.
.
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.
Similar articles
-
X-linked ichthyosis due to steroid-sulphatase deficiency.Lancet. 1978 Jan 14;1(8055):70-2. doi: 10.1016/s0140-6736(78)90005-3. Lancet. 1978. PMID: 74568
-
Sex-linked ichthyosis and placental sulphatase C deficiency.Br J Dermatol. 1980 Jul;103(1):73-9. doi: 10.1111/j.1365-2133.1980.tb15840.x. Br J Dermatol. 1980. PMID: 7426407
-
The effect of steroid sulphatase on stratum corneum shedding in patients with X-linked ichthyosis.Br J Dermatol. 1985 Dec;113(6):641-3. doi: 10.1111/j.1365-2133.1985.tb02398.x. Br J Dermatol. 1985. PMID: 3868421
-
Review: genetics of steroid sulphatase deficiency and X-linked ichthyosis.J Inherit Metab Dis. 1982;5(3):153-63. doi: 10.1007/BF01800171. J Inherit Metab Dis. 1982. PMID: 6820437 Review.
-
X-linked ichthyosis.Int J Dermatol. 1981 Jan-Feb;20(1):26-31. doi: 10.1111/j.1365-4362.1981.tb05280.x. Int J Dermatol. 1981. PMID: 7009454 Review. No abstract available.
Cited by
-
Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome.Proc Natl Acad Sci U S A. 1979 Nov;76(11):5779-83. doi: 10.1073/pnas.76.11.5779. Proc Natl Acad Sci U S A. 1979. PMID: 293682 Free PMC article.
-
Evidence for a dosage effect at the X-linked steroid sulfatase locus in human tissues.Am J Hum Genet. 1983 Mar;35(2):234-40. Am J Hum Genet. 1983. PMID: 6573129 Free PMC article.
-
Steroid sulfatase gene in XX males.Am J Hum Genet. 1990 Feb;46(2):369-76. Am J Hum Genet. 1990. PMID: 2301402 Free PMC article.
-
Placental steroid deficiency: association with arylsulfatase A deficiency.Am J Hum Genet. 1982 May;34(3):434-43. Am J Hum Genet. 1982. PMID: 6123259 Free PMC article.
-
Regional assignment of the gene locus for steroid sulfatase.Hum Genet. 1980;54(2):201-4. doi: 10.1007/BF00278972. Hum Genet. 1980. PMID: 6985463
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
