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Article

Hyperkinetic movement disorders in congenital disorders of glycosylation

27 May 2019

Abstract excerpt

BACKGROUND AND PURPOSE: Congenital disorders of glycosylation (CDG) represent an increasing number of rare inherited metabolic diseases associated with abnormal glycan metabolism and disease onset in infancy or early childhood. Most CDG are multisystemic diseases mainly affecting the central nervous system. The aim of the current study was to investigate hyperkinetic movement disorders in patients affected by CDG...

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PMID: 31132195
DOI: 10.1111/ene.14007

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