title: Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy.
abstract: An immunofluorometric method was developed for the semiquantitative determination of trihexosylceramide in cultured fibroblasts from Fabry disease patients, using a laser scanning confocal imaging system. The accumulated glycolipid was detected as granular inclusions in the cells. Heterozygote identification was achieved both by counting of immunoreactive cells and by measuring the relative fluorescence intensity with a digital imaging system.
authors.affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Itoh
authors.forename: M
authors.initials: M
authors.lastname: Kotani
authors.forename: T
authors.initials: T
authors.lastname: Tai
authors.forename: H
authors.initials: H
authors.lastname: Suzuki
authors.forename: T
authors.initials: T
authors.lastname: Utsunomiya
authors.forename: H
authors.initials: H
authors.lastname: Inoue
authors.forename: H
authors.initials: H
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
mesh_terms: D000328:Adult; D000911:Antibodies, Monoclonal; D015415:Biomarkers / Q000032:analysis; D002240:Carbohydrate Sequence; D002478:Cells, Cultured; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005455:Fluorescent Antibody Technique; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D007091:Image Processing, Computer-Assisted / Q000379:methods*; D007834:Lasers; D008297:Male; D008855:Microscopy, Electron, Scanning / Q000379:methods; D008875:Middle Aged; D008969:Molecular Sequence Data; D014281:Trihexosylceramides / Q000032:analysis*; D000519:alpha-Galactosidase / Q000032:analysis; D001619:beta-N-Acetylhexosaminidases / Q000032:analysis
chemical_list: D000911:Antibodies, Monoclonal; D015415:Biomarkers; D014281:Trihexosylceramides; C018549:globotriaosylceramide; D000519:alpha-Galactosidase; D001619:beta-N-Acetylhexosaminidases