Literature DB >> 8131301

Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy.

K Itoh1, M Kotani, T Tai, H Suzuki, T Utsunomiya, H Inoue, H Yamada, H Sakuraba, Y Suzuki.   

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.

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Year:  1993        PMID： 8131301     DOI： 10.1111/j.1399-0004.1993.tb03905.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

1.  Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes.

Authors:  Fumiko Matsuzawa; Sei-ichi Aikawa; Hirofumi Doi; Toshika Okumiya; Hitoshi Sakuraba
Journal:  Hum Genet       Date:  2005-05-28       Impact factor: 4.132

2.  Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer.

Authors:  Jinhee Park; Gary J Murray; Advait Limaye; Jane M Quirk; Monique P Gelderman; Roscoe O Brady; Pankaj Qasba
Journal:  Proc Natl Acad Sci U S A       Date:  2003-03-06       Impact factor: 11.205

3.  Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice.

Authors:  S C Jung; I P Han; A Limaye; R Xu; M P Gelderman; P Zerfas; K Tirumalai; G J Murray; M J During; R O Brady; P Qasba
Journal:  Proc Natl Acad Sci U S A       Date:  2001-02-27       Impact factor: 11.205

4.  Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer.

Authors:  Hiroshi Takahashi; Yukihiko Hirai; Makoto Migita; Yoshihiko Seino; Yuh Fukuda; Hitoshi Sakuraba; Ryoichi Kase; Toshihide Kobayashi; Yasuhiro Hashimoto; Takashi Shimada
Journal:  Proc Natl Acad Sci U S A       Date:  2002-10-07       Impact factor: 11.205

5.  Corrective effect on Fabry mice of yeast recombinant human alpha-galactosidase with N-linked sugar chains suitable for lysosomal delivery.

Authors:  Hitoshi Sakuraba; Yasunori Chiba; Masaharu Kotani; Ikuo Kawashima; Mai Ohsawa; Youichi Tajima; Yuki Takaoka; Yoshifumi Jigami; Hiroshi Takahashi; Yukihiko Hirai; Takashi Shimada; Yasuhiro Hashimoto; Kumiko Ishii; Toshihide Kobayashi; Kazuhiko Watabe; Tomoko Fukushige; Tamotsu Kanzaki
Journal:  J Hum Genet       Date:  2006-03-11       Impact factor: 3.172

6.  Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy.

Authors:  Kenichi Hongo; Toru Harada; Eiko Fukuro; Masahisa Kobayashi; Toya Ohashi; Yoshikatsu Eto
Journal:  Mol Genet Metab Rep       Date:  2020-07-16
  6 in total

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