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

R. Francisco; C. Pascoal; D. Marques-da-Silva; E. Morava; G. A. Gole; D. Coman; J. Jaeken; Vanessa Dos Reis Ferreira

doi:10.1007/s10545-017-0119-2

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

R. Francisco, C. Pascoal, D. Marques-da-Silva, E. Morava, G. A. Gole, D. Coman, J. Jaeken, Vanessa Dos Reis Ferreira

Medical Genetics

Research output: Contribution to journal › Article

5 Scopus citations

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 language	English (US)
Pages (from-to)	1-16
Number of pages	16
Journal	Journal of inherited metabolic disease
DOIs	https://doi.org/10.1007/s10545-017-0119-2
State	Accepted/In press - Feb 1 2018

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1007/s10545-017-0119-2

Fingerprint Dive into the research topics of 'Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review'. Together they form a unique fingerprint.

Cite this

Francisco, R., Pascoal, C., Marques-da-Silva, D., Morava, E., Gole, G. A., Coman, D., Jaeken, J., & Dos Reis Ferreira, V. (Accepted/In press). Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review. Journal of inherited metabolic disease, 1-16. https://doi.org/10.1007/s10545-017-0119-2

@article{00b69da0820e4e728cab8b688303b49b,

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 = "R. Francisco and C. Pascoal and D. Marques-da-Silva and E. Morava and Gole, {G. A.} and D. Coman and J. Jaeken and {Dos Reis Ferreira}, Vanessa",

year = "2018",

month = feb,

day = "1",

doi = "10.1007/s10545-017-0119-2",

language = "English (US)",

pages = "1--16",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

}

TY - JOUR

T1 - Keeping an eye on congenital disorders of O-glycosylation

T2 - a systematic literature review

AU - Francisco, R.

AU - Pascoal, C.

AU - Marques-da-Silva, D.

AU - Morava, E.

AU - Gole, G. A.

AU - Coman, D.

AU - Jaeken, J.

AU - Dos Reis Ferreira, Vanessa

PY - 2018/2/1

Y1 - 2018/2/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85045075021&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85045075021&partnerID=8YFLogxK

U2 - 10.1007/s10545-017-0119-2

DO - 10.1007/s10545-017-0119-2

M3 - Article

AN - SCOPUS:85045075021

SP - 1

EP - 16

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

ER -