International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care,...

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Udgivet i:J Inherit Metab Dis
Main Authors: Welling, Lindsey, Bernstein, Laurie E., Berry, Gerard T., Burlina, Alberto B., Eyskens, François, Gautschi, Matthias, Grünewald, Stephanie, Gubbels, Cynthia S., Knerr, Ina, Labrune, Philippe, van der Lee, Johanna H., MacDonald, Anita, Murphy, Elaine, Portnoi, Pat A., Õunap, Katrin, Potter, Nancy L., Rubio-Gozalbo, M. Estela, Spencer, Jessica B., Timmers, Inge, Treacy, Eileen P., Van Calcar, Sandra C., Waisbren, Susan E., Bosch, Annet M.
Format: Artigo
Sprog:Inglês
Udgivet: Springer Netherlands 2016
Fag:
Guidelines
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5306419/
https://ncbi.nlm.nih.gov/pubmed/27858262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-016-9990-5
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