Article
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Molecular genetics and metabolism - 1 Mar 2020
Welsink-Karssies Mendy M, van Weeghel Michel, Hollak Carla E M, Elfrink Hyung L, Janssen Mirian C H, Lai Kent, Langendonk Janneke G, Oussoren Esmee, Ruiter Jos P N, Treacy Eileen P, de Vries Maaike, Ferdinandusse Sacha, Bosch Annet M
Abstract excerpt
BACKGROUND: The high variability in clinical outcome of patients with Classical Galactosemia (CG) is poorly understood and underlines the importance of prognostic biomarkers, which are currently lacking. The aim of this study was to investigate if residual galactose metabolism capacity is associated with clinical and biochemical outcomes in CG patients with varying geno- and phenotypes. METHODS: Galactose...
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