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https://dora.health.qld.gov.au/qldresearchjspui/handle/1/3495| Title: | Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review | Authors: | Marques-da-Silva, D. Francisco, R. Pascoal, C. Morava, E. dos Reis Ferreira, V. Jaeken, J. Coman, D. Gole, G. A. |
Issue Date: | 2019 | Source: | 42, (1), 2019, p. 29-48 | Pages: | 29-48 | Journal: | Journal of Inherited Metabolic Disease | Abstract: | 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.L6268349082019-03-28 | DOI: | 10.1002/jimd.12025 | Resources: | https://www.embase.com/search/results?subaction=viewrecord&id=L626834908&from=exporthttp://dx.doi.org/10.1002/jimd.12025 | | Keywords: | isoprenoid synthase;mannosyltransferase;membrane protein;messenger RNA;mucin;n acetylgalactosamine;n acetylgalactosaminyltransferase;n acetylglucosaminyltransferase;synthetase;transferase;transmembrane protein 5;unclassified drug;uridine diphosphate;xylosyltransferase 2;blindness;cataract;congenital disorder of glycosylation;cornea disease;diagnostic procedure;disease severity;exophthalmos;eye disease;eye malformation;gene mutation;glaucoma;glycosylation;human;incidence;medical research;molecular mechanics;phenotypic variation;review;systematic review;fukutin related protein;galactosyltransferase;beta 1,3 galactosyltransferasefucosyltransferase;glucuronosyltransferase;glycosyltransferase | Type: | Article |
| Appears in Sites: | Children's Health Queensland Publications |
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