A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
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چکیده
منابع مشابه
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
Cerebellar hypoplasia and slowly progressive ophthalmological symptoms are common features in patients with congenital disorders of glycosylation type I. In a group of patients with congenital disorders of glycosylation type I with unknown aetiology, we have previously described a distinct phenotype with severe, early visual impairment and variable eye malformations, including optic nerve hypop...
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ژورنال
عنوان ژورنال: Brain
سال: 2010
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awq261