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Journal of Inherited Metabolic Disease|March 13, 2022
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, et al.Hepatology (Baltimore, Md.)|March 8, 2020
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseMagda Cannata Serio, Laurie A Graham, Angel Ashikov, et al.American Journal of Human Genetics|February 3, 2016
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationJos C Jansen, Sharita Timal, Monique van Scherpenzeel, et al.Journal of Inherited Metabolic Disease|February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patientsMari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
Oral D-galactose supplementation in PGM1-CDGSunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, et al.American Journal of Human Genetics|June 18, 2021
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylationDaniel L Polla, Andrew C Edmondson, Sandrine Duvet, et al.Cell Metabolism|December 14, 2011
Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in manAdriaan G Holleboom, Helen Karlsson, Ruei-Shiuan Lin, et al.Brain : a Journal of Neurology|September 21, 2010
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolismEva Morava, Ron A Wevers, Vincent Cantagrel, et al.Journal of Inherited Metabolic Disease|June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomaliesEva Morava, Vera Tiemes, Christian Thiel, et al.Frontiers in Neurology|June 24, 2021
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical SpectrumBibiche den Hollander, Anne Rasing, Merel A Post, et al.Pageof 17