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Journal of Inherited Metabolic Disease|March 25, 2011
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type IMailys Guillard, Yoshinao Wada, Hana Hansikova, et al.Journal of Advanced Research|September 8, 2023
Plasma glycoproteomics delivers high-specificity disease biomarkers by detecting site-specific glycosylation abnormalitiesHans J C T Wessels, Purva Kulkarni, Maurice van Dael, et al.Biochimica Et Biophysica Acta. Molecular Basis of Disease|August 16, 2017
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defectMattia Vicario, Tito Calì, Domenico Cieri, et al.ACS Chemical Biology|August 11, 2015
Sialic Acid Glycoengineering Using an Unnatural Sialic Acid for the Detection of Sialoglycan Biosynthesis Defects and On-Cell Synthesis of Siglec LigandsChristian Büll, Torben Heise, Daniëlle M H Beurskens, et al.Heart Failure Reviews|February 14, 2012
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)Livia Kapusta, Nili Zucker, George Frenckel, et al.Neurology|July 23, 2017
Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDGDavid C Schorling, Simone Rost, Dirk J Lefeber, et al.Translational Research : the Journal of Laboratory and Clinical Medicine|July 27, 2018
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiencyNurulamin Abu Bakar, Nicol C Voermans, Thorsten Marquardt, et al.Neurology|May 3, 2015
Absence of α- and β-dystroglycan is associated with Walker-Warburg syndromeMoniek Riemersma, Hanna Mandel, Ellen van Beusekom, et al.Neurology|July 23, 2013
Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transportMiski Mohamed, Angel Ashikov, Mailys Guillard, et al.Journal of Inherited Metabolic Disease|May 9, 2022
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemiaBritt Delnoy, Minela Haskovic, Jo Vanoevelen, et al.Pageof 17