The 1‐(13)C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

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 th...

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Bibliographic Details
Published in:J Inherit Metab Dis
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: John Wiley & Sons, Inc. 2020
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Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7317391/
https://ncbi.nlm.nih.gov/pubmed/31845337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12207
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