1. Beesley, C. E., Meaney, C. A., Greenland, G., et al. (2001). Mutational analysis of 85 mucopolysaccharidosis type I families: Frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Human Genetics, 109, 503–511.
2. Bijarnia, S., Shaw, P., Vimpani, A., et al. (2009). Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome. Journal of Paediatrics and Child Health, 45, 469–472.
3. Bunge, S., Kleijer, W. J., Steglich, C., et al. (1994). Mucopolysaccharidosis type I: Identification of 8 novel mutations and determination of the frequency of the two common alpha-l-iduronidase mutations (W402X and Q70X) among European patients. Human Molecular Genetics, 3, 861–866.
4. Clarke L. A., & Heppner, J. (2011). Mucopolysaccharidosis type I. GeneReviews. Retrieved 21 July 2011. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1162/
5. Coletti, H. Y., Aldenhoven, M., Yelin, K., et al. (2015). Long-term functional outcomes of children with Hurler syndrome treated with unrelated umbilical cord blood transplantation. JIMD Reports, 20, 77–88.