Referanslar

  1. Amartino H, Hunter syndrome (mucopolysaccharidosis II) - the signs and symptoms a neurologist needs to know. Eur Neurol Rev 2015; 10(01): 90-94.
  2. Burton BK, Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr 2012; 171(4): 631 -639.
  3. Challenging Behaviour, A Guide to understanding behaviour management in Mucopolysaccharide and related Diseases; Society for Mucopolysaccharide Diseases.
  4. Demydchuk M, et al. Insights into Hunter syndrome from the structure of iduronate-2-sulfatase. Nat Commun 2017; 8: 15786.
  5. Jones SA, et al. Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis 2009; 32(4): 534-543.
  6. Kampmann C, et al. Prevalence and characterization of cardiac involvement in Hunter syndrome. J Pediatr 2011; 159(2): 327-331. e2.
  7. Keilmann A, et al. Hearing loss in patients with mucopolysaccharidosis II: Data from HOS – the Hunter Outcome Survey; J Inherit Metab Dis (2012) 35:343–353.
  8. Martin R, et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 2008; 121(2): e377–e386.
  9. Meikle PJ, Prevalence of lysosomal storage disorders. JAMA 1999; 281 (3): 249-254.
  10. MPS Society; Guide to Understanding Mucopolysaccharidosis II (MPS II) Hunter Disease; https://www.mpssociety.org.uk/mps-ii.
  11. Muenzer et al. Multidisciplinary management of Hunter syndrome. Pediatrics 2009; 124(6): e1228-e1239.
  12. Muenzer J. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses; Molecular Genetics and Metabolism 111 (2014) 63–72.
  13. Neufeld E, Muenzer J, The Mucopolysaccharidoses. In: The Online Metabolic & Molecular Bases Of Inherited Disease. 2001.
  14. NICE guideline. Transition from children’s to adults’ services for young people using health or social care services Published: 24 February 2016 (nice.org.uk/guidance/ng43).
  15. Raluy-Callado et al. The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of lifeOrphanet Journal of Rare Diseases 2013, 8:101.
  16. 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.
  17. Scarpa M. Mucopolysaccharidosis Type II. 2007 Nov 6 [updated 2018 Oct 4]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301451.
  18. Wraith JE, et al. Initial report from the Hunter outcome survey. Genet Med 2008; 10(7): 508-516.