NGLY1 deficiency—A rare congenital disorder of deglycosylation
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 fe...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-05-01
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Series: | JIMD Reports |
Subjects: | |
Online Access: | https://doi.org/10.1002/jmd2.12108 |