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

M.M. Welsink-Karssies, D. van Harskamp, S. Ferdinandusse, C.E.M. Hollak, H.H. Huidekoper, M.C.H. Janssen, E.M. Kemper, J.G. Langendonk, M.E. Rubio-Gozalbo, M.C. de Vries, F.A. Wijburg, H. Schierbeek, A.M. Bosch

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)507-517
Number of pages11
JournalJournal of Inherited Metabolic Disease
Issue number3
Publication statusPublished - 1 May 2020


  • (co2)-c-13
  • c-13
  • galactose oxidation
  • inborn error of metabolism
  • isotope ratio mass spectrometry
  • oxidation
  • C-13
  • (CO2)-C-13

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