Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Joergen Bierau, M. Estela Rubio-Gozalbo*, Ana I. Coelho

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number212
Number of pages8
JournalOrphanet Journal of Rare Diseases
Volume13
DOIs
Publication statusPublished - 26 Nov 2018

Keywords

  • Classic galactosemia
  • Inherited metabolic disorder
  • Galactose metabolism
  • Arginine
  • Amino acid supplementation
  • Chemical chaperones
  • INBORN-ERRORS
  • URIDYLYLTRANSFERASE
  • PROTEINS

Cite this

Haskovic, M., Derks, B., van der Ploeg, L., Trommelen, J., Nyakayiru, J., van Loon, L. J. C., Mackinnon, S., Yue, W. W., Peake, R. W. A., Zha, L., Demirbas, D., Qi, W., Huang, X., Berry, G. T., Achten, J., Bierau, J., Rubio-Gozalbo, M. E., & Coelho, A. I. (2018). Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Orphanet Journal of Rare Diseases, 13, [212]. https://doi.org/10.1186/s13023-018-0954-8