The natural history of classic galactosemia: lessons from the GalNet registry

M. E. Rubio-Gozalbo*, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Haberle, M. Hochuli, A. Hubert, H. H. Huidekoper, P. Janeiro, J. Kotzka, I. KnerrP. Labrune, Y. E. Landau, J. G. Langendonk, D. Moeslinger, D. Mueller-Wieland, E. Murphy, K. Ounap, D. Ramadza, I. A. Rivera, S. Scholl-Buergi, K. M. Stepien, A. Thijs, C. Tran, R. Vara, G. Visser, R. Vos, M. de Vries, S. E. Waisbren, M. M. Welsink-Karssies, S. B. Wortmann, M. Gautschi, E. P. Treacy, G. T. Berry

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number86
Number of pages11
JournalOrphanet Journal of Rare Diseases
Volume14
DOIs
Publication statusPublished - 27 Apr 2019

Keywords

  • Registry
  • Natural history
  • Galactosemia
  • GALT deficiency
  • Galactosemia network
  • ADULT PATIENTS
  • VITAMIN-D
  • COMPLICATIONS
  • RESTRICTION
  • PREVALENCE
  • METABOLISM
  • CHILDREN
  • OUTCOMES
  • DENSITY
  • HEALTH

Cite this

Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Haberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., ... Berry, G. T. (2019). The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet Journal of Rare Diseases, 14, [86]. https://doi.org/10.1186/s13023-019-1047-z