Neufeld, E. F. & Muenzer, J. The Mucopolysaccharidoses in The metabolic and molecular bases of inherited disease (eds. Scriver, C. R. et al.) 3421-3452 (McGraw-Hill, 2001).
Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: A potential therapeutic approach for Sanfilippo disease
Dziedzic, D., Wegrzyn, G. & Jakóbkiewicz-Banecka, J. Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease. Eur. J. Hum. Genet. 18, 200-205 (2010).
Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses
Kaidonis, X. et al. Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses. Eur. J. Hum. Genet. 18, 194-199 (2010).
Molecular analysis of Sanfilippo syndrome type C in Spain: Seven novel HGSNAT mutations and characterization of the mutant alleles
Canals, I. et al. Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. Clin. Genet. 80, 367-374 (2011).
Improved and simple micro assay for sulfated glycosaminoglycans quantification in biological extracts and its use in skin and muscle tissue studies
Barbosa, I. et al. Improved and simple micro assay for sulfated glycosaminoglycans quantification in biological extracts and its use in skin and muscle tissue studies. Glycobiology 13, 647-653 (2003).