ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG

Autor: Miao He, Jozef Hertecant, Jolanta Sykut-Cegielska, Nurulamin Abu Bakar, Sunnie Yan Wai Wong, Francis Bowling, David Nguyen, Stefanie Perez, Tim L. Emmerzaal, Katja S. Brocke Holmefjord, Jaak Jaeken, Kea Crivelly, Gernot Poschet, Dieter Koch, Amanda M. Ackermann, Eva Morava, François Foulquier, Dirk Lefeber, Hana Hansikova, Nicole Peeters, Marit Mork, K. Michael Gibson, Kimiyo Raymond, Therese Gadomski, Graeme Preston, Christian Thiel, Monique van Scherpenzeel, Tomas Honzik, Tamas Kozicz

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine
Genetics in Medicine, 2017, Genetics in Medicine. Official Journal of the American College of Medical Genetics, 19 (11), pp.1226-1235. ⟨10.1038/gim.2017.41⟩
Genetics in Medicine, 19, 11, pp. 1226-1235
Genetics in Medicine, 19, 1226-1235

Contains fulltext : 181642.pdf (Publisher’s version ) (Closed access) PurposePhosphoglucomutase-1 deficiency is a subtype of congenital disorders of glycosylation (PGM1-CDG). Previous casereports in PGM1-CDG patients receiving oral D-galactose (D-g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0572b9eeab1d0f7388ff8570b693790e
http://europepmc.org/articles/PMC5675745