Mucopolysaccharidosis

[1]. B Triggs-Raine, et al. Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. Proc Natl Acad Sci U S A. 1999 May 25;96(11):6296-300. [Content Brief]

[2]. Bryce A Heese, et al. Current strategies in the management of lysosomal storage diseases. Semin Pediatr Neurol. 2008 Sep;15(3):119-26. [Content Brief]

[3]. Doris Hofer, et al. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. Hum Mutat. 2009 Aug;30(8):1214-21. [Content Brief]

[4]. Ed J Wraith, et al. Laronidase treatment of mucopolysaccharidosis I. BioDrugs. 2005;19(1):1-7. [Content Brief]

[5]. Graciana Diez-Roux, et al. Sulfatases and human disease. Annu Rev Genomics Hum Genet. 2005;6:355-79. [Content Brief]

[6]. H S Scott, et al. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat. 1995;6(4):288-302. [Content Brief]

[7]. M J Valstar, et al. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008 Apr;31(2):240-52. [Content Brief]

[8]. Roberto Giugliani, et al. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007 Aug;120(2):405-18. [Content Brief]

[9]. S Al Sawaf, et al. Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. J Inherit Metab Dis. 2008 Aug;31(4):473-80. [Content Brief]

[10]. Shunji Tomatsu, et al. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat. 2009 Apr;30(4):511-9. [Content Brief]