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Pediatric Dermatology|February 21, 2014
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylationDorus Kouwenberg, Thatjana Gardeitchik, Miski Mohamed, et al.
Biochimica Et Biophysica Acta. General Subjects|April 20, 2021
Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer lookFederica Conte, Nicole van Buuringen, Nicol C Voermans, et al.
Investigative Ophthalmology & Visual Science|May 20, 2017
Omics Biomarkers in OphthalmologySusette Lauwen, Eiko K de Jong, Dirk J Lefeber, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine|August 27, 2015
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylationMonique van Scherpenzeel, Gerry Steenbergen, Eva Morava, et al.
The Journal of Biological Chemistry|February 8, 2026
Biosynthetic and genetic pathways related to sialic acid metabolismSjanie Huang, Eline G P van de Ven, Trisha Tee, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 27, 2016
Fast, robust and high-resolution glycosylation profiling of intact monoclonal IgG antibodies using nanoLC-chip-QTOFJoannes F M Jacobs, Ron A Wevers, Dirk J Lefeber, et al.
Frontiers in Chemistry|March 3, 2020
Biological and Technical Challenges in Unraveling the Role of N-Glycans in Immune Receptor RegulationPaola de Haas, Wiljan J A J Hendriks, Dirk J Lefeber, et al.
Molecular Vision|April 28, 2021
Increased pro-MMP9 plasma levels are associated with neovascular age-related macular degeneration and with the risk allele of rs142450006 near <i>MMP9</i>Susette Lauwen, Dirk J Lefeber, Sascha Fauser, et al.
Journal of Proteome Research|September 25, 2015
N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 DeficiencyRadka Saldova, Henning Stöckmann, Roisin O'Flaherty, et al.
Journal of Inherited Metabolic Disease|December 2, 2025
Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic DisordersJonathan Martens, Udo F H Engelke, Ron A Wevers, et al.
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