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European Journal of Medical Genetics|October 29, 2017
Congenital disorders of glycosylation (CDG): Quo vadis?Romain Péanne, Pascale de Lonlay, François Foulquier, et al.Glycobiology|May 18, 2026
Cellular homeostasis of N-acetylneuraminic acid and non-canonical sialic acids is mediated by human N-acetylneuraminate lyaseSjanie Huang, Iris Harmsen, Moritz Rahm, et al.Nature Communications|April 15, 2022
CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse modelHideki Tokuoka, Rieko Imae, Hitomi Nakashima, et al.JIMD Reports|June 24, 2017
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and HypoceruloplasminemiaPier Luigi Calvo, Marco Spada, Ivana Rabbone, et al.Journal of Inherited Metabolic Disease|April 2, 2019
Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDGWalinka van Tol, Helen Michelakakis, Elissavet Georgiadou, et al.American Journal of Medical Genetics. Part A|February 13, 2013
Perinatal and early infantile symptoms in congenital disorders of glycosylationSimone Funke, Thatjana Gardeitchik, Dorus Kouwenberg, et al.Molecular Genetics and Metabolism|March 6, 2012
Thyroid function in PMM2-CDG: diagnostic approach and proposed managementMiski Mohamed, Miranda Theodore, Hedi Claahsen-van der Grinten, et al.Nature Communications|December 3, 2021
Fluorinated rhamnosides inhibit cellular fucosylationJohan F A Pijnenborg, Emiel Rossing, Jona Merx, et al.Journal of Inherited Metabolic Disease|June 20, 2020
Screening for abnormal glycosylation in a cohort of adult liver disease patientsJos C Jansen, Bart van Hoek, Herold J Metselaar, et al.Bioconjugate Chemistry|May 27, 2021
Structure-Activity Relationship of Fluorinated Sialic Acid Inhibitors for Bacterial SialylationSam J Moons, Emiel Rossing, Jurriaan J A Heming, et al.Pageof 17