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Search results for "Congenital disorder of glycosylation"

The congenital disorder of glycosylation, PMM2-CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. Researchers have identified a sibling pair, mildly ...


Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. A study has evaluated patients who had a novel recessive disorder of glycosylation, with a ...