This site is intended for U.S audiences


Please see below for links to the full digital
publications referenced throughout this website.

Hunter syndrome publications laptop and books icons green and yellow

Bianchi PM et al. ENT and mucopolysaccharidoses. Ital J Pediatr. 2018;44(Suppl 2):127.

Burton BK and Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr. 2012;171(4):631-639.

Burton BK et al. Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update. Int J Neonatal Screen. 2020;6(3):73.

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.

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.

Holt JB et al. Natural progression of neurological disease in mucopolysaccharidosis type II. Pediatrics. 2011;127(5):e1258-e1265.

Martin R et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008;121(2):e377-e386.

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.

Muenzer J et al. Multidisciplinary management of Hunter syndrome. Pediatrics. 2009;124(6):e1228-e1239.

Muenzer J. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol Genet Metab. 2014;111(2):63-72.

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.

Steipen KM et al. Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS). Orphanet J Rare Dis. 2020;15(1):114.

Wraith JE et al. Initial report from the Hunter Outcome Survey. Genet Med. 2008;10(7):508-516.


Hunter syndrome is a
progressive genetic disease

If you suspect Hunter syndrome, refer your patient to a metabolic geneticist for an accurate diagnosis.