Poeppel, P., Habetha, M., Marcão, A., Büssow, H., et al. (2005). Missense mutations as a cause of metachromatic leukodystrophy: Degradation of arylsulfatase A in the endoplasmic reticulum. FEBS Journal, 272(5), 1179 - 1188.

Pinto, R., Caseiro, C., Lemos, M., Lopes, L., et al. (2004). Prevalence of lysosomal storage diseases in Portugal. European Journal of Human Genetics, 12(2), 87 - 92.