NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation

NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still poorly known and, to date, most cases have been diagnosed through whole exome or genome sequencing. The aim of this study is to provide the clini...

Full description

Bibliographic Details
Main Authors: Ivana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, Kimiyo Raymond, Franklin Ducatez, Anne-Marie Guerrot, Sarah Snanoudj, Sophie Coutant, Pascale Saugier-Veber, Stéphane Marret, Gaël Nicolas, Abdellah Tebani, Soumeya Bekri
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Life
Subjects:
NGLY1-CDDG
NGLY1
congenital disorder of deglycosylation
hypolacrimia
alacrimia
movement disorder
Online Access:https://www.mdpi.com/2075-1729/11/3/187

Internet

https://www.mdpi.com/2075-1729/11/3/187

Similar Items