D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-galactose in 9 PMM2-CDG patients. Overall, there was no significant improvement but some mi...

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Publicat a:Orphanet J Rare Dis
Autors principals: Witters, Peter, Andersson, Hans, Jaeken, Jaak, Tseng, Laura, van Karnebeek, Clara D. M., Lefeber, Dirk J., Cassiman, David, Morava, Eva
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
Matèries:
Letter to the Editor
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7980351/
https://ncbi.nlm.nih.gov/pubmed/33743737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01609-z
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