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dc.contributor.authorFrancisco, R
dc.contributor.authorPascoal, C
dc.contributor.authorMarques-da-Silva, D
dc.contributor.authorMorava, E
dc.contributor.authorGole, GA
dc.contributor.authorComan, D
dc.contributor.authorJaeken, J
dc.contributor.authordos Reis Ferreira, V
dc.date.accessioned2019-09-11T05:51:39Z
dc.date.available2019-09-11T05:51:39Z
dc.date.issued2019
dc.identifier.issn0141-8955en_US
dc.identifier.doi10.1002/jimd.12025en_US
dc.identifier.urihttp://hdl.handle.net/10072/387221
dc.description.abstractCongenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects. Even among this CDG subgroup, phenotypic diversity is broad, ranging from mild to severe poly-organ/system dysfunction. Ophthalmic manifestations are present in 60% of these CDG. The ophthalmic manifestations in N-glycosylation-deficient patients have been described elsewhere. The present review documents the spectrum and incidence of eye disorders in patients with pure O-glycosylation defects with the aim of assisting diagnosis and management and promoting research.en_US
dc.description.peerreviewedYesen_US
dc.languageengen_US
dc.publisherWiley Onlineen_US
dc.publisher.placeGermany
dc.relation.ispartofpagefrom29en_US
dc.relation.ispartofpageto48en_US
dc.relation.ispartofissue1en_US
dc.relation.ispartofjournalJournal of Inherited Metabolic Diseaseen_US
dc.relation.ispartofvolume42en_US
dc.subject.fieldofresearchClinical Sciencesen_US
dc.subject.fieldofresearchcode1103en_US
dc.titleKeeping an eye on congenital disorders of O-glycosylation: A systematic literature reviewen_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Articlesen_US
dcterms.bibliographicCitationFrancisco, R; Pascoal, C; Marques-da-Silva, D; Morava, E; Gole, GA; Coman, D; Jaeken, J; dos Reis Ferreira, V, Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review, Journal of Inherited Metabolic Disease, 2019, 42 (1), pp. 29-48en_US
dc.date.updated2019-09-10T04:09:54Z
gro.hasfulltextNo Full Text
gro.griffith.authorComan, Dave J.


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