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

Rita Francisco, Carlota Pascoal, Dorinda Marques-da-Silva, Eva Morava-Kozicz, Glen A. Gole, David Coman, Jaak Jaeken, Vanessa Dos Reis Ferreira

Research output: Contribution to journalReview article

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.

Original languageEnglish (US)
Pages (from-to)29-48
Number of pages20
JournalJournal of inherited metabolic disease
Volume42
Issue number1
DOIs
StatePublished - Jan 1 2019
Externally publishedYes

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Congenital Disorders of Glycosylation
Eye Manifestations
Glycosylation
Inborn Genetic Diseases
Incidence
Research

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Francisco, R., Pascoal, C., Marques-da-Silva, D., Morava-Kozicz, E., Gole, G. A., Coman, D., ... Dos Reis Ferreira, V. (2019). Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review. Journal of inherited metabolic disease, 42(1), 29-48. https://doi.org/10.1002/jimd.12025

Keeping an eye on congenital disorders of O-glycosylation : A systematic literature review. / Francisco, Rita; Pascoal, Carlota; Marques-da-Silva, Dorinda; Morava-Kozicz, Eva; Gole, Glen A.; Coman, David; Jaeken, Jaak; Dos Reis Ferreira, Vanessa.

In: Journal of inherited metabolic disease, Vol. 42, No. 1, 01.01.2019, p. 29-48.

Research output: Contribution to journalReview article

Francisco, R, Pascoal, C, Marques-da-Silva, D, Morava-Kozicz, E, Gole, GA, Coman, D, Jaeken, J & Dos Reis Ferreira, V 2019, 'Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review', Journal of inherited metabolic disease, vol. 42, no. 1, pp. 29-48. https://doi.org/10.1002/jimd.12025
Francisco, Rita ; Pascoal, Carlota ; Marques-da-Silva, Dorinda ; Morava-Kozicz, Eva ; Gole, Glen A. ; Coman, David ; Jaeken, Jaak ; Dos Reis Ferreira, Vanessa. / Keeping an eye on congenital disorders of O-glycosylation : A systematic literature review. In: Journal of inherited metabolic disease. 2019 ; Vol. 42, No. 1. pp. 29-48.
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