The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes

MM Welsink-Karssies, M van Weeghel, CEM Hollak, HL Elfrink, MCH Janssen, K Lai, Janneke Langendonk, Esmeralda Oussoren, JPN Ruiter, EP Treacy, M Boersma - de Vries, S Ferdinandusse, AM Bosch

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)
24 Downloads (Pure)
Original languageUndefined/Unknown
Pages (from-to)171-176
Number of pages6
JournalMolecular Genetics and Metabolism
Publication statusPublished - 2020

Research programs

  • EMC MM-01-54-01
  • EMC NIHES-02-67-01

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