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

Journal

JOURNAL OF INHERITED METABOLIC DISEASE
Volume 42, Issue 1, Pages 29-48

Publisher

WILEY
DOI: 10.1002/jimd.12025

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Funding

  1. Fundacao para a Ciencia e Tecnologia
  2. CDG Professionals and Patient Associations International Network
  3. APCDG

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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.

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