PMM2-CDG caused by uniparental disomy: Case report and literature review

BACKGROUNDPhosphomannomutase 2 deficiency (PMM2-CDG) affects glycosylation pathways such as the N-glycosylation pathway, resulting in loss of function of multiple proteins. This disorder causes multisystem involvement with a high variability among patients. PMM2-CDG is an autosomal recessive disorde...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	JIMD reports 2020, Vol.54 (1), p.16-21
Hauptverfasser:	Vaes, Laurien, Tiller, George E, Pérez, Belén, Boyer, Suzanne W, Berry, Susan A, Sarafoglou, Kyriakie, Morava, Eva
Format:	Report
Sprache:	eng
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!