Titre :

Congenital disorders of glycosylation (CDG): Quo vadis ?

Auteur(s) :

Péanne, Romain [Auteur]
Center for Human Genetics, University of Leuven School of Medicine
De Lonlay, Pascale [Auteur]

Foulquier, Francois [Auteur]
Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 [UGSF]
Kornak, Uwe [Auteur]
Charité - UniversitätsMedizin = Berlin University Medicine
Lefeber, Dirk J. [Auteur]
Radboud University Medical Center [Nijmegen]
Morava, Eva [Auteur]
Catholic University of Leuven = Katholieke Universiteit Leuven [KU Leuven]
Pérez, Belén [Auteur]
CIBER de Enfermedades Raras (CIBERER)
Seta, Nathalie [Auteur]
CIC - CHU Bichat
Thiel, Christian [Auteur]
Universität Heidelberg [Heidelberg] = Heidelberg University
Van Schaftingen, Emile [Auteur]
University Hospitals Leuven [Leuven]
Matthijs, Gert [Auteur]
Center for Human Genetics, University of Leuven School of Medicine
Jaeken, Jaak [Auteur]
Catholic University of Leuven = Katholieke Universiteit Leuven [KU Leuven]

Titre de la revue :

European journal of medical genetics

Numéro :

61

Pagination :

643-663

Date de publication :

2018-11

ISSN :

1769-7212

Discipline(s) HAL :

Chimie/Chimie théorique et/ou physique

Résumé en anglais : [en]

The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. ...
Lire la suite >The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to involve patients and their families. In the second part, it tries to look into the future of CDG. More specific biomarkers are needed for fast CDG diagnosis and treatment monitoring. Whole genome sequencing will play an increasingly important role in the molecular diagnosis of unsolved CDG. Epigenetic defects are expected to join the rapidly expanding genetic and allelic heterogeneity of the CDG family. Novel treatments are urgently needed particularly for PMM2-CDG, the most prevalent CDG. Patient services such as apps should be developed e.g. to document the natural history and monitor treatment. Networking (EURO-CDG, the European Reference Networks (MetabERN)) is an efficient tool to disseminate knowledge and boost collaboration at all levels. The final goal is of course to improve the quality of life of the patients and their families.Lire moins >

Langue :

Anglais

Audience :

Non spécifiée

Projet Européen :

ERA-NET rare disease research implementing IRDiRC objectives

Établissement(s) :

CNRS
Université de Lille

Collections :

• Unité de Glycobiologie Structurale et Fonctionnelle (UGSF) - UMR 8576

Équipe(s) de recherche :

Mécanismes moléculaires de la N-glycosylation et pathologies associées

Date de dépôt :

2020-02-12T15:45:23Z
2021-03-25T13:34:23Z