NGLY1 deficiency—A rare congenital disorder of deglycosylation

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...

Full description

Bibliographic Details
Main Authors: Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar
Format: Article
Language:English
Published: Wiley 2020-05-01
Series:JIMD Reports
Subjects:
congenital disorders of deglycosylation
dyskinesia
global developmental delay
NGLY1
whole exome sequencing
Online Access:https://doi.org/10.1002/jmd2.12108

Internet

https://doi.org/10.1002/jmd2.12108

Similar Items