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

3 Citations (Scopus)
17 Downloads (Pure)
Original languageEnglish
Pages (from-to)507-517
Number of pages11
JournalJournal of Inherited Metabolic Disease
Volume43
Issue number3
DOIs
Publication statusPublished - 2020

Research programs

  • EMC MM-01-54-01

Cite this