Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

M.M. Welsink-Karssies, S. Ferdinandusse, G.J. Geurtsen, C.E.M. Hollak, H.H. Huidekoper, M.C.H. Janssen, J.G. Langendonk, J.H. van der Lee, R. O'Flaherty, K.J. Oostrom, S.D. Roosendaal, M.E. Rubio-Gozalbo, R. Saldova, E.P. Treacy, F.M. Vaz, M.C. de Vries, M. Engelen, A.M. Bosch

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number06
Number of pages16
JournalBrain Communications
Volume2
Issue number1
DOIs
Publication statusPublished - 1 Jan 2020

Keywords

  • children
  • classical galactosemia
  • clinical outcome
  • galt deficiency
  • glycan
  • igg n-glycosylation
  • management
  • mri
  • prognostic biomarkers
  • verbal dyspraxia
  • MANAGEMENT
  • MRI
  • IGG N-GLYCOSYLATION
  • GALT deficiency
  • CHILDREN
  • GLYCAN
  • VERBAL DYSPRAXIA

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