title: Enzymatic diagnosis of steroid sulfatase deficiency by high performance liquid chromatography.
abstract: We established a reversed phase high performance liquid chromatographic (HPLC) method of assaying lymphocyte steroid sulfatase activity using estrone sulfate as the substrate. Application of this method for diagnosis of 8 patients allowed us to clearly distinguish the patients from the normal controls. This method is simpler and less expensive than the method previously reported, since neither radioisotope labeled substrates nor radioisotope facilities are required. We consider it to be easily used and widely available in most clinical laboratories.
authors.affiliation: Department of Pediatrics, Hiroshima University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Ohsaki
authors.forename: T
authors.initials: T
authors.lastname: Matsumoto
authors.forename: N
authors.initials: N
authors.lastname: Sakura
authors.forename: K
authors.initials: K
authors.lastname: Ueda
mesh_terms: D000328:Adult; D001192:Arylsulfatases / Q000097:blood / Q000172:deficiency*; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D004970:Estrone / Q000031:analogs & derivatives / Q000378:metabolism; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology; D008214:Lymphocytes / Q000201:enzymology*; D008297:Male; D012016:Reference Values; D012727:Sex Characteristics; D043266:Steryl-Sulfatase
chemical_list: D004970:Estrone; D001192:Arylsulfatases; D043266:Steryl-Sulfatase; C017296:estrone sulfate