This site is intended for U.S audiences
Please see below for links to the full digital
publications referenced throughout this website.
Bianchi PM et al. ENT and mucopolysaccharidoses. Ital J Pediatr. 2018;44(Suppl 2):127.
https://pubmed.ncbi.nlm.nih.gov/30442170/Burton BK and Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr. 2012;171(4):631-639.
https://pubmed.ncbi.nlm.nih.gov/22383073/Burton BK et al. Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update. Int J Neonatal Screen. 2020;6(3):73.
https://pubmed.ncbi.nlm.nih.gov/33117908/Giugliani R et al. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. Genet Mol Biol. 2014;37(2):315-329.
https://pubmed.ncbi.nlm.nih.gov/25071396/Gupta A et al. Hunter syndrome with late age of presentation: clinical description of a case and review of the literature. BMJ Case Rep. 2015;2015:bcr2015209305.
https://pubmed.ncbi.nlm.nih.gov/25976201/Holt JB et al. Natural progression of neurological disease in mucopolysaccharidosis type II. Pediatrics. 2011;127(5):e1258-e1265.
https://pubmed.ncbi.nlm.nih.gov/21518713/Martin R et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008;121(2):e377-e386.
https://pubmed.ncbi.nlm.nih.gov/18245410/Mendelsohn NJ et al. Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Genet Med. 2010;12(12):816-822.
https://pubmed.ncbi.nlm.nih.gov/21045710/Muenzer J et al. Multidisciplinary management of Hunter syndrome. Pediatrics. 2009;124(6):e1228-e1239.
https://pubmed.ncbi.nlm.nih.gov/19901005/Muenzer J. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol Genet Metab. 2014;111(2):63-72.
https://pubmed.ncbi.nlm.nih.gov/24388732/Scarpa M et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011;6:72.
https://pubmed.ncbi.nlm.nih.gov/22059643/Steipen KM et al. Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS). Orphanet J Rare Dis. 2020;15(1):114.
https://pubmed.ncbi.nlm.nih.gov/32410642/Wraith JE et al. Initial report from the Hunter Outcome Survey. Genet Med. 2008;10(7):508-516.
https://pubmed.ncbi.nlm.nih.gov/18580692/Hunter syndrome is a
progressive genetic disease
If you suspect Hunter syndrome, refer your patient to a metabolic geneticist for an accurate diagnosis.