Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy
1993; Wiley; Volume: 44; Issue: 6 Linguagem: Inglês
10.1111/j.1399-0004.1993.tb03905.x
ISSN1399-0004
AutoresKohji Itoh, Masaharu Kotani, Tadashi Tai, Hiroshi Suzuki, Toru Utsunomiya, Hisako Inoue, Hideo Yamada, Hitoshi Sakuraba, Yoshiyuki Suzuki,
Tópico(s)Trypanosoma species research and implications
ResumoItoh K, Kotani M, Tai T, Suzuki H, Utsunomiya T, Inoue H, Yamada H, Sakuraba H, Suzuki Y. Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy. Clin Genet 1993: 44: 302–306. © Munksgaard, 1993 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.
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