Lefeber, Dirk J.

SRD5A3 Is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., et al. (2010) · Cell

Glycosylation and Glycoproteins ResearchGlycogen Storage Diseases and Myoclonus

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NANS-mediated synthesis of sialic acid is required for brain and skeletal development

van Karnebeek, C. D. M., Bonafé, L., Wen, X.-Y., Tarailo-Graovac, M., Balzano, S., Royer-Bertrand, B., Ashikov, A., Garavelli, L., Mammi, I., Turolla, L., et al. (2016) · Nature Genetics

Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders Research

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Congenital disorders of glycosylation in hepatology: The example of polycystic liver disease

Janssen, M. J., Waanders, E., Woudenberg, J., Lefeber, D. J., & Drenth, J. P. H. (2010) · Journal of Hepatology

Genetic and Kidney Cyst DiseasesGlycogen Storage Diseases and Myoclonus

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