Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review.
J Inherit Metab Dis
; 42(1): 29-48, 2019 01.
Article
em En
| MEDLINE
| ID: mdl-30740740
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Defeitos Congênitos da Glicosilação
/
Oftalmopatias
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article