@article{c80322b0f96f49838007e8dd6b668892,
title = "Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review",
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.",
author = "Rita Francisco and Carlota Pascoal and Dorinda Marques-da-Silva and Eva Morava and Gole, {Glen A.} and David Coman and Jaak Jaeken and {dos Reis Ferreira}, Vanessa",
note = "Funding Information: This work was supported by the CDG Professionals and Patient Associations International Network (CDG & Allies – PPAIN) and Liliana Fellowships from APCDG attributed to Marques-da-Silva D. Francisco R. was supported by Funda{\c c}{\~a}o para a Ci{\^e}ncia e Tecnologia (FCT). The authors confirmed independence from sponsors; the content of the article has not been influenced by sponsors. Publisher Copyright: {\textcopyright} 2018 SSIEM",
year = "2019",
month = jan,
doi = "10.1002/jimd.12025",
language = "English",
volume = "42",
pages = "29--48",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer Science Business Media",
number = "1",
}