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NGLY1 deficiency—A rare congenital disorder of deglycosylation

10 Apr 2020

Abstract excerpt

Abstract Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transaminases, and alacrima or hypolacrima. To date, only few cases of NGLY1 deficiency have been identified and reported in the literature. This report highlights a first...

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PMID: 32395402
DOI: 10.1002/jmd2.12108

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