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Journal of Inherited Metabolic Disease|March 9, 2011
From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseasesVincent Cantagrel, Dirk J LefeberEuropean Journal of Human Genetics : EJHG|June 25, 2019
Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylationJaak Jaeken, Dirk J Lefeber, Gert MatthijsJournal of Inherited Metabolic Disease|October 2, 2014
Genetic defects in dolichol metabolismAnna Buczkowska, Ewa Swiezewska, Dirk J LefeberCurrent Opinion in Structural Biology|February 2, 2019
O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machineryWalinka van Tol, Hans Wessels, Dirk J LefeberGlycoconjugate Journal|January 8, 2016
Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylationMonique Van Scherpenzeel, Esther Willems, Dirk J LefeberJournal of Inherited Metabolic Disease|March 3, 2018
Clinical glycomics for the diagnosis of congenital disorders of glycosylationNurulamin Abu Bakar, Dirk J Lefeber, Monique van ScherpenzeelEuropean Journal of Human Genetics : EJHG|April 30, 2009
Autosomal recessive cutis laxa syndrome revisitedEva Morava, Maïlys Guillard, Dirk J Lefeber, et al.International Journal of Molecular Sciences|May 27, 2023
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic ReviewFederica Conte, Juda-El Sam, Dirk J Lefeber, et al.Clinical Chemistry|February 25, 2006
Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a reviewSuzan Wopereis, Dirk J Lefeber, Eva Morava, et al.Biochimica Et Biophysica Acta|January 2, 2016
Genetic defects in the hexosamine and sialic acid biosynthesis pathwayAnke P Willems, Baziel G M van Engelen, Dirk J LefeberPageof 17