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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Genet Med
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2017
विषय:
Article
ऑनलाइन पहुंच: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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