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• W2020999344 abstract "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 the patients harbored the M296I mutation common to Japanese Fabry patients. This amino acid substitution is predicted to cause a small conformational change on the surface of the α-galactosidase A molecule, resulting in residual enzyme activity. Plasma lyso-Gb3 is a good biomarker of Fabry disease but care should be taken when it is used for a definitive diagnosis." @default.
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• W2020999344 date "2012-11-01" @default.
• W2020999344 modified "2023-10-17" @default.
• W2020999344 title "Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level" @default.
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• W2020999344 doi "https://doi.org/10.1016/j.ymgme.2012.07.003" @default.
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