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European Journal of Human Genetics : EJHG|February 22, 2020
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferaseVeronica M Pravata, Michaela Omelková, Marios P Stavridis, et al.
The Journal of Biological Chemistry|June 7, 2017
Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disabilityAnke P Willems, Mehmet Gundogdu, Marlies J E Kempers, et al.
Biochimica Et Biophysica Acta|June 14, 2006
Abnormal glycosylation with hypersialylated O-glycans in patients with SialuriaSuzan Wopereis, Umi M Abd Hamid, Alison Critchley, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|April 15, 2015
A common sugar-nucleotide-mediated mechanism of inhibition of (glycosamino)glycan biosynthesis, as evidenced by 6F-GalNAc (Ac3)Xander M van Wijk, Roger Lawrence, Victor L Thijssen, et al.
Molecular Genetics and Metabolism|September 14, 2011
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiencySamira Achouitar, Jennifer L Goldstein, Miski Mohamed, et al.
Journal of Inherited Metabolic Disease|June 21, 2023
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot studyBibiche den Hollander, Marion M Brands, Lonneke de Boer, et al.
Pediatrics|September 12, 2012
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutationsEva Morava, Julia Vodopiutz, Dirk J Lefeber, et al.
Clinical Chemistry and Laboratory Medicine|February 9, 2024
N-linked glycosylation of the M-protein variable region: glycoproteogenomics reveals a new layer of personalized complexity in multiple myelomaPieter Langerhorst, Melissa Baerenfaenger, Purva Kulkarni, et al.
Science (New York, N.Y.)|March 23, 2013
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entryLucas T Jae, Matthijs Raaben, Moniek Riemersma, et al.
Clinical Chemistry|August 4, 2019
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular DystrophyWalinka van Tol, Monique van Scherpenzeel, Mohammad Alsady, et al.
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