ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG

BACKGROUND/PURPOSE: Phosphoglucomutase-1 deficiency is a subtype of congenital disorders of glycosylation (PGM1-CDG). Previous case-reports in PGM1-CDG patients receiving oral D-galactose (D-gal) showed clinical improvement. So far no systematic in vitro and clinical studies assessed safety and bene...

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Publicat a:Genet Med
Autors principals: Wong, Sunnie Yan-Wai, Gadomski, Therese, van Scherpenzeel, Monique, Honzik, Tomas, Hansikova, Hana, Brocke Holmefjord, Katja S., Mork, Marit, Bowling, Francis, Cegielska, Jolanta Sykut, Koch, Dieter, Hertecant, Jozef, Preston, Graeme, Jaeken, Jaak, Peeters, Nicole, Perez, Stefanie, Nguyen, David Do, Crivelly, Kea, Emmerzaal, Tim, Gibson, K. Michael, Raymond, Kimiyo, Bakar, Nurulamin Abu, Foulquier, Francois, Poschet, Gernot, Ackermann, Amanda, He, Miao, Lefeber, Dirk, Thiel, Christian, Kozicz, Tamas, Morava, Eva
Format: Artigo
Idioma:Inglês
Publicat: 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5675745/
https://ncbi.nlm.nih.gov/pubmed/28617415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.41
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