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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書誌詳細
出版年:J Inherit Metab Dis
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley & Sons, Inc. 2020
主題:
Original Articles
オンライン･アクセス: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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