Article
The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
Journal of inherited metabolic disease - 1 May 2020
Welsink-Karssies Mendy M, van Harskamp Dewi, Ferdinandusse Sacha, Hollak Carla E M, Huidekoper Hidde H, Janssen Mirian C H, Kemper E Marleen, Langendonk Janneke G, Rubio-Gozalbo M Estela, de Vries Maaike C, Wijburg Frits A, Schierbeek Henk, Bosch Annet M
Abstract excerpt
Classical galactosemia (CG) patients frequently develop long-term complications despite early dietary treatment. The highly variable clinical outcome is poorly understood and a lack of prognostic biomarkers hampers individual prognostication and treatment. The aim of this study was to investigate the association between residual galactose oxidation capacity and clinical and biochemical outcomes in CG patients...
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