Article
Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level.
Molecular genetics and metabolism - 1 Nov 2012
Mitobe Sayuri, Togawa Tadayasu, Tsukimura Takahiro, Kodama Takashi, Tanaka Toshie, Doi Kent, Noiri Eisei, Akai Yasuhiro, Saito Yoshihiko, Yoshino Makoto, Takenaka Toshihiro, Saito Seiji, Ohno Kazuki, Sakuraba Hitoshi
Abstract excerpt
Recently, plasma globotriaosylsphingosine (lyso-Gb3) has attracted attention as a biomarker of Fabry disease. However, we found a subset of Fabry disease patients who did not show any increase in the plasma lyso-Gb3 concentration, although other patients exhibited apparent enhancement of it. This subset predominantly exhibited the clinical phenotype of later-onset Fabry disease, and gene analysis revealed that...
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