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Search results for "Glycogenosis"

Late-onset glycogenosis type II ( GSD II ) is a rare, multisystem disorder mainly affecting limb and respiratory muscles due to acid alpha glucosidase deficiency. Despite evidence at autopsy of glycog ...

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 ...