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 | |
| State | Accepted/In press - Feb 1 2018 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Keeping an eye on congenital disorders of O-glycosylation : a systematic literature review. / Francisco, R.; Pascoal, C.; Marques-da-Silva, D.; Morava-Kozicz, Eva; Gole, G. A.; Coman, D.; Jaeken, J.; Dos Reis Ferreira, Vanessa.
In: Journal of Inherited Metabolic Disease, 01.02.2018, p. 1-16.Research output: Contribution to journal › Article
}
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-Kozicz, Eva
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.
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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 -