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Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review

Tijdschriftbijdrage - Tijdschriftartikel

Congenital 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.
Tijdschrift: Journal of Inherited Metabolic Disease
ISSN: 0141-8955
Issue: 1
Volume: 42
Pagina's: 29 - 48
Jaar van publicatie:2019
BOF-keylabel:ja
IOF-keylabel:ja
BOF-publication weight:1
Auteurs:International
Authors from:Higher Education
Toegankelijkheid:Closed