Galactosemia patient characteristics.
收藏Figshare2015-12-02 更新2026-04-29 收录
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GALT enzyme activities indicate that all patients have the classic galactosemia type. Urine galactose and galactitol levels indicate adequate dietary compliance.1GALT activity was measured at diagnosis;2In case the GALT activity is not reported, it was confirmed by the treating physician to be severely decreased;3ND = not detected;4Urine levels were measured within three months of testing;5At some point in life;6Q188R/L195P (n = 4) or Q188R/S135W (n = 1);7L195P/K229N (n = 3) or 400Tdel/unknown (n = 2).
创建时间：
2015-12-02
