title: [The possibility of increasing the precision of biochemical diagnostics of Gaucher disease].
abstract: Estimation of chitotriosidase activity is proposed for final diagnostics of Gaucher disease. Using this method the diagnosis has not been confirmed in one patient of 25 ones with this preliminary diagnosis. The problems of complex diagnostics of Gaucher disease are discussed.
authors.forename: N H
authors.initials: NH
authors.lastname: Horovenko
authors.forename: V D
authors.initials: VD
authors.lastname: Drozdova
authors.forename: A M
authors.initials: AM
authors.lastname: Nedoboĭ
authors.forename: N V
authors.initials: NV
authors.lastname: Ol'khovych
authors.forename: N O
authors.initials: NO
authors.lastname: Pichkur
authors.forename: M A
authors.initials: MA
authors.lastname: Tsyhankova
authors.forename: O V
authors.initials: OV
authors.lastname: Radzikhovs'ka
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D003951:Diagnostic Errors / Q000517:prevention & control*; D005260:Female; D005776:Gaucher Disease / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology; D006596:Hexosaminidases / Q000378:metabolism*; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D012680:Sensitivity and Specificity; D013050:Spectrometry, Fluorescence; D001617:beta-Glucosidase / Q000378:metabolism*
chemical_list: D015415:Biomarkers; D006596:Hexosaminidases; C086400:chitotriosidase; D001617:beta-Glucosidase