Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

Four patients with carbohydrate deficient glycoprotein (CDG) syndrome type I underwent ophthalmic examination. All of them had retinitis pigmentosa with extinguished scotopic electroretinogram. The importance of CDG syndromes as one of the metabolic causes of retinal dystrophy with 'bony spicul...

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Detaylı Bibliyografya
Asıl Yazarlar: Fiumara, A, Barone, R, Buttitta, P, Di Pietro, M, Scuderi, A, Nigro, F, Jaeken, J
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1994
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC504970/
https://ncbi.nlm.nih.gov/pubmed/7848982
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