Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2058910 | Molecular Genetics and Metabolism Reports | 2014 | 5 Pages |
Abstract
Adipose triglyceride lipase (ATGL) deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy presents distinct fat-containing vacuoles known as Jordans' anomaly in peripheral leucocytes. To develop an automatic notification system for Jordans' anomaly in ATGL-deficient patients, we analyzed circulatory leukocyte scattergrams on automated hematology analyzer XE-5000. The BASO-WX and BASO-WY values were found to be significantly higher in patients than those in non-affected subjects. The two parameters measured by automated hematology analyzer may be expected to provide an important diagnostic clue for homozygous ATGL deficiency.
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Authors
Akira Suzuki, Hironori Nagasaka, Yasuhiro Ochi, Kazuhiro Kobayashi, Hiroshi Nakamura, Daisaku Nakatani, Satoshi Yamaguchi, Shinobu Yamaki, Atsushi Wada, Yoshihisa Shirata, Shu-Ping Hui, Tatsushi Toda, Hiroshi Kuroda, Hitoshi Chiba, Ken-ichi Hirano,