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Scientific Reports|March 18, 2017
Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapyNuria Revilla, María Eugenia de la Morena-Barrio, Antonia Miñano, et al.
The Journal of Pediatrics|September 17, 2011
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvementMaïlys Guillard, Eva Morava, Jorg de Ruijter, et al.
Orphanet Journal of Rare Diseases|June 13, 2015
ALG8-CDG: novel patients and review of the literatureMichaela Höck, Karina Wegleiter, Elisabeth Ralser, et al.
Frontiers in Immunology|May 23, 2022
Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of GlycosylationPaola de Haas, Marien I de Jonge, Hans J P M Koenen, et al.
Elife|March 22, 2023
Glia-neuron coupling via a bipartite sialylation pathway promotes neural transmission and stress tolerance in DrosophilaHilary Scott, Boris Novikov, Berrak Ugur, et al.
RSC Chemical Biology|November 5, 2025
Investigating the utilization mechanism and kinetics of sialic acid mimetics in mammalian cell linesEline A Visser, Daniël L A H Hornikx, Moritz Rahm, et al.
Disease Models & Mechanisms|March 23, 2023
Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiencyMarcus Keatinge, Matthew E Gegg, Lisa Watson, et al.
Cells|July 14, 2023
Isotopic Tracing of Nucleotide Sugar Metabolism in Human Pluripotent Stem CellsFederica Conte, Marek J Noga, Monique van Scherpenzeel, et al.
Plos One|September 26, 2015
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and MucolipidosesEveline J Langereis, Tom Wagemans, Wim Kulik, et al.
Molecular Genetics and Metabolism Reports|July 14, 2021
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjectsChristel Tran, Licia Turolla, Diana Ballhausen, et al.
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