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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Hlavní autoři: Fiumara, A, Barone, R, Buttitta, P, Di Pietro, M, Scuderi, A, Nigro, F, Jaeken, J
Médium: Artigo
Jazyk:Inglês
Vydáno: 1994
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC504970/
https://ncbi.nlm.nih.gov/pubmed/7848982
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