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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Fiumara, A, Barone, R, Buttitta, P, Di Pietro, M, Scuderi, A, Nigro, F, Jaeken, J
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1994
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC504970/
https://ncbi.nlm.nih.gov/pubmed/7848982
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