Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability by Ferreira, C.R., Goorden, S.M.I., Soldatos, A., Byers, H.M., Ghauharali-van der Vlugt, J.M.M., Beers-Stet, F.S., Groden, C., van Karnebeek, C.D., Gahl, W.A., Vaz, F.M., Jiang, X., Vernon, H.J.

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Pyridoxine-dependent epilepsy (PDE): Diagnostic and therapeutic queries by Lunsing, R.J, van Spronsen, F.J, Bok, L.A, Struys, E.A, van Karnebeek, C.D

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Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder by den Hollander, B., Veenvliet, A.R.J., Rothuizen-Lindenschot, M., van Essen, P., Peters, G., Santos-Gómez, A., Olivella, M., Altafaj, X., Brands, M.M., Jacobs, B.A.W., van Karnebeek, C.D.

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A vitamin a day keeps the doctor away: The need for high quality pyridoxal-5′-phosphate by Stolwijk, N.N., Brands, M.M., Smit, L.S., van der Wel, V., Hollak, C.E.M., van Karnebeek, C.D.

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Bone health and SATB2‐associated syndrome by Zarate, Y.A., Steinraths, M., Matthews, A., Smith, W.E., Sun, A., Wilson, L.C., Brain, C., Allgove, J., Jacobs, B., Fish, J.L., Powell, C.M., Wasserman, W.W., van Karnebeek, C.D., Wakeling, E.L., Ma, N.S.

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A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder by Matthews, A.M., Tarailo-Graovac, M., Price, E.M., Blydt-Hansen, I., Ghani, A., Drögemöller, B.I., Robinson, W.P., Ross, C.J., Wasserman, W.W., Siden, H., van Karnebeek, C.D.

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