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Journal of Hepatology|February 9, 2010
Congenital disorders of glycosylation in hepatology: the example of polycystic liver diseaseManoe J Janssen, Esmé Waanders, Jannes Woudenberg, et al.
International Journal of Molecular Sciences|October 20, 2020
Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of GlycosylationAgnes L Hipgrave Ederveen, Noortje de Haan, Melissa Baerenfaenger, et al.
JIMD Reports|May 13, 2020
ATP6AP1-CDG: Follow-up and female phenotypePatryk Lipiński, Dariusz Rokicki, Anna Bogdańska, et al.
Analytical and Bioanalytical Chemistry|April 27, 2024
Mixed-phase weak anion-exchange/reversed-phase LC-MS/MS for analysis of nucleotide sugars in human fibroblastsMoritz Rahm, Hanneke Kwast, Hans J C T Wessels, et al.
American Journal of Medical Genetics. Part A|April 21, 2017
Three families with mild PMM2-CDG and normal cognitive developmentMari-Anne Vals, Eva Morava, Kai Teeäär, et al.
International Journal of Molecular Sciences|July 8, 2020
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of GlycosylationPeter T A Linders, Ella Peters, Martin Ter Beest, et al.
Biochimica Et Biophysica Acta|January 28, 2009
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxaMailys Guillard, Aikaterini Dimopoulou, Björn Fischer, et al.
Proteomics. Clinical Applications|February 3, 2015
MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresisStéphanie Yen-Nicolaÿ, Céline Boursier, Marlène Rio, et al.
Carbohydrate Research|July 7, 2009
Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometryMaïlys Guillard, Jolein Gloerich, Hans J C T Wessels, et al.
JIMD Reports|September 10, 2017
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene MutationWienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, et al.
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