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Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism
van Outersterp, R. E., Moons, S. J., Engelke, U. F. H., Bentlage, H., Peters, T. M. A., van Rooij, A., Huigen, M. C. D. G., de Boer, S., van der Heeft, E., Kluijtmans, L. A. J., van Karnebeek, C. D. M., Wevers, R. A., Berden, G., Oomens, J., Boltje, T. J., Coene, K. L. M. & Martens, J., 1 Dec 2021, In: Communications Biology. 4, 1, 367.Research output: Contribution to journal › Article* › Academic › peer-review
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D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
Witters, P., Andersson, H., Jaeken, J., Tseng, L., van Karnebeek, C. D. M., Lefeber, D. J., Cassiman, D. & Morava, E., 1 Dec 2021, In: Orphanet journal of rare diseases. 16, 1, 138.Research output: Contribution to journal › Comment/Letter to the editor* › Academic
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Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy
Modi, B. P., del Bel, K. L., Lin, S., Sharma, M., Richmond, P. A., van Karnebeek, C. D. M., Chan, E. S., Avinashi, V., Rehmus, W. E., Biggs, C. M., Wasserman, W. W. & Turvey, S. E., 1 Dec 2021, In: Allergy, asthma, and clinical immunology. 17, 1, 9.Research output: Contribution to journal › Comment/Letter to the editor* › Academic
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