A new method for the determination of steroid sulphatase activity in leukocytes in X-linked recessive ichthyosis. 1983

A C Jöbsis, and W P De Groot, and A E Meijer, and C M Van der Loos

The diagnosis of X-linked ichthyosis can now be reliably established by using a non-radioactive method to detect steroid sulphatase deficiency in leukocytes. This new method yields the same results with leukocytes as with cultured fibroblasts. The second type of microsomal arylsulphatase previously described in cultured fibroblasts is also present in leukocytes.

UI MeSH Term Description Entries
D007057 Ichthyosis Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. Xeroderma,Ichthyoses,Xerodermas
D007962 Leukocytes White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES). Blood Cells, White,Blood Corpuscles, White,White Blood Cells,White Blood Corpuscles,Blood Cell, White,Blood Corpuscle, White,Corpuscle, White Blood,Corpuscles, White Blood,Leukocyte,White Blood Cell,White Blood Corpuscle
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D001774 Blood Chemical Analysis An examination of chemicals in the blood. Analysis, Blood Chemical,Chemical Analysis, Blood,Analyses, Blood Chemical,Blood Chemical Analyses,Chemical Analyses, Blood
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004591 Electrophoresis, Polyacrylamide Gel Electrophoresis in which a polyacrylamide gel is used as the diffusion medium. Polyacrylamide Gel Electrophoresis,SDS-PAGE,Sodium Dodecyl Sulfate-PAGE,Gel Electrophoresis, Polyacrylamide,SDS PAGE,Sodium Dodecyl Sulfate PAGE,Sodium Dodecyl Sulfate-PAGEs
D005260 Female Females
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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