Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

Por Oostra, R J, Bolhuis, P A, Wijburg, F A, Zorn-Ende, G, Bleeker-Wagemakers, E M
Publicado em 1994

Hearing loss in children with Fabry disease

Por Suntjens, E., Dreschler, W. A., Hess-Erga, J., Skrunes, R., Wijburg, F. A., Linthorst, G. E., Tøndel, C., Biegstraaten, M.
Publicado no J Inherit Metab Dis (2017)

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Por Waterham, H R, Wijburg, F A, Hennekam, R C, Vreken, P, Poll-The, B T, Dorland, L, Duran, M, Jira, P E, Smeitink, J A, Wevers, R A, Wanders, R J
Publicado em 1998

Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB

Por Meijer, O. L. M., Welling, L., Valstar, M. J., Hoefsloot, L. H., Brüggenwirth, H. T., van der Ploeg, A. T., Ruijter, G. J. G., Wagemans, T., Wijburg, F. A., van Vlies, N.
Publicado no J Inherit Metab Dis (2016)