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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317391/
https://www.ncbi.nlm.nih.gov/pubmed/31845337
http://dx.doi.org/10.1002/jimd.12207

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317391/
https://www.ncbi.nlm.nih.gov/pubmed/31845337
http://dx.doi.org/10.1002/jimd.12207

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