doi.org/10.1023/A:1005362826552, hdl.handle.net/1765/54479
Journal of Inherited Metabolic Disease
Department of Clinical Genetics

Weber, B., van de Kamp, J., Kleijer, W., Guo, X., Blanch, L., van Diggelen, O., Wevers, R., Poorthuis, B.& Hopwood, J. (1998). Identification of a common mutation (R245H) in Sanfilippo A patients from the Netherlands. Journal of Inherited Metabolic Disease, 21(4), 416–422.https://doi.org/10.1023/A:1005362826552