Sweet and sour: an update on classic galactosemia

Ana I. Coelho*, M. Estela Rubio-Gozalbo, Joao B. Vicente, Isabel Rivera

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

53 Citations (Web of Science)
Original languageEnglish
Pages (from-to)325-342
Number of pages18
JournalJournal of Inherited Metabolic Disease
Volume40
Issue number3
DOIs
Publication statusPublished - May 2017

Keywords

  • HUMAN GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE
  • CHROMATOGRAPHY-MASS SPECTROMETRY
  • HUMAN GALACTOKINASE INHIBITORS
  • DROSOPHILA-MELANOGASTER MODEL
  • URIDYLTRANSFERASE DEFICIENCY GALACTOSEMIA
  • MAGNETIC-RESONANCE-SPECTROSCOPY
  • URIDYLYL-ENZYME INTERMEDIATE
  • YEAST EXPRESSION SYSTEM
  • LONG-TERM PROGNOSIS
  • LOS-ANGELES VARIANT

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