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- W2785583877 endingPage "48" @default.
- W2785583877 startingPage "29" @default.
- W2785583877 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." @default.
- W2785583877 created "2018-02-23" @default.
- W2785583877 creator A5020022294 @default.
- W2785583877 creator A5037922892 @default.
- W2785583877 creator A5037979149 @default.
- W2785583877 creator A5039186678 @default.
- W2785583877 creator A5051704399 @default.
- W2785583877 creator A5074303150 @default.
- W2785583877 creator A5076640163 @default.
- W2785583877 creator A5085765615 @default.
- W2785583877 date "2019-01-01" @default.
- W2785583877 modified "2023-09-26" @default.
- W2785583877 title "Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review" @default.
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