Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleA novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.AuthorsPérez, Belén; Medrano, Celia; Ecay, Maria; Ruiz-Sala, Pedro; Martínez-Pardo, Mercedes; Ugarte, Magdalena; Pérez-Cerdá, CeliaPublicationJournal of Inherited Metabolic Disease, 2013, Vol 36, Issue 3, p535ISSN0141-8955Publication typeArticleDOI10.1007/s10545-012-9525-7