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

Author:

Fiumara A,Barone R,Buttitta P,Di Pietro M,Scuderi A,Nigro F,Jaeken J

Publisher

BMJ

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference6 articles.

1. The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement;Jaeken, J.; Stibler, H.; Hagberg, B.;Acta Paediatr Scand Suppl,1991

2. The carbohydrateglycoprotein deficient syndromes. Pre-Golgi and Golgi disorders?;Jaeken, J.; Carchon, H.; Stibler, H.;Glycobiology,1993

3. Disialotransferrin developmental deficiency syndrome;Kristiansson, B.; Andersson, M.; Tonnby, B.; Hagberg, B.;Arch Dis Child,1989

4. Full field electroretinograms in patients with the carbohydratedeficient glycoprotein syndrome;Andreasson, S.; Blennow, G.; Ehinger, B.; Str0mland, K.;Am J Ophthalmol,1991

5. Hypertrophic obstructive cardiomyopathy in a neonate with carbohydrate-deficient glycoprotein syndrome;Clayton, P.T.; Winchester, B.G.; Keir, G.;J InherMetab Dis,1992

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