Hyperkinetic movement disorders: expanding the phenotype of congenital disorders of glycosylation
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DOI: 10.1111/ene.14013
Abstract: Congenital disorders of glycosylation (CDG) constitutes a rare group of inborn error of metabolism with myriad clinical presentation due to multisystem involvement. They are caused by mutations in the genes encoding for enzymes involved in… read more here.
Keywords: hyperkinetic movement; congenital disorders; disorders glycosylation; expanding phenotype ... See more keywords