Rare diseases Xagena
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 ...
