Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study

Por Ruijter, G J G, Goudriaan, D A, Boer, A M, Van den Bosch, J, Van der Ploeg, A T, Elvers, L H, Weinreich, S S, Reuser, A J
Publicado em 2013

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

Por van de Kamp, J M, Lefeber, D J, Ruijter, G J G, Steggerda, S J, den Hollander, N S, Willems, S M, Matthijs, G, Poorthuis, B J H M, Wevers, R A
Publicado em 2007

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)