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

MM Welsink-Karssies, D van Harskamp, S Ferdinandusse, CEM Hollak, Hidde Huidekoper, MCH Janssen, EM Kemper, Janneke Langendonk, ME Rubio-Gozalbo, MC de Vries, FA Wijburg, H Schierbeek, AM Bosch

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Scopus)
1 Downloads (Pure)
Original languageEnglish
Pages (from-to)507-517
Number of pages11
JournalJournal of Inherited Metabolic Disease
Issue number3
Publication statusPublished - 2020

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