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Dry eye in childhood: Epidemiological and clinical aspects
(ETHIS COMMUNICATINS, INC, 2008)
Because dry eye disease is rare in children and its pathogenesis is less well known than in adults, its diagnosis is often overlooked. It can occur in association with a number of congenital, autoimmune, endocrine, and ...
A novel fission yeast platform to model N -glycosylation and the bases of congenital disorders of glycosylation Type I
(Company of Biologists, 2022-03)
Congenital disorders of glycosylation type I (CDG-I) are inherited human diseases caused by deficiencies in lipid-linked oligosaccharide (LLO) synthesis or the glycan transfer to proteins during N-glycosylation. We constructed ...
COG1-congenital disorders of glycosylation: Milder presentation and review
(Wiley Blackwell Publishing, Inc, 2021-09)
Congenital disorders of glycosylation (CDG) are a heterogeneous group of genetic defects in glycoprotein and glycolipid glycan synthesis and attachment. A CDG subgroup are defects in the conserved oligomeric Golgi complex ...
Severe visual impairment and blindness in infants: causes and opportunities for control
(Medknow Publications, 2014)
Characteristics and management of congenital anophthalmos and microphthalmos at a tertiary eye hospital
(2019-05-04)
Purpose: The purpose of the study is to evaluate demographic data and outcomes of the management of congenital anophthalmia/microphthalmia. Methods: This retrospective, descriptive, cross-sectional study evaluated patients ...
Success Rates of Endoscopic-Assisted Probing Compared to Conventional Probing in Children 48 Months or Older
(2018-04-03)
Background: To evaluate the success rates of endoscopic-assisted probing compared to conventional probing in children 48 months or older. Methods: This retrospective study included children 48 months and older with CNLDO ...
Anoftalmia clínica bilateral associada à hidrocefalia congênita em cão
(Universidade Federal de Santa Maria (UFSM), 2011-07-01)
A ausência completa do bulbo ocular é muito rara em cães e gatos, enquanto a hidrocefalia é comumente observada como distúrbio congênito em cães de raças miniatura ou braquicefálicas, com menos de um ano de idade. O presente ...
Anoftalmia clínica bilateral associada à hidrocefalia congênita em cão
(Universidade Federal de Santa Maria (UFSM), 2011-07-01)
A ausência completa do bulbo ocular é muito rara em cães e gatos, enquanto a hidrocefalia é comumente observada como distúrbio congênito em cães de raças miniatura ou braquicefálicas, com menos de um ano de idade. O presente ...