Bibliografia

Overview

1. Wraith JE et al. Mucopolisaccaridosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008;167:267-77.

2. Osservatorio Malattie Rare (OMAR). Sindrome di Hunter: news su farmaci, sperimentazioni, ricerca scientifica e qualità della vita. Disponibile al sito: https://www.osservatoriomalattierare.it/malattie-rare/sindrome-di-hunter-mps-ii. Ultimo accesso in data: 05/10/2020.

3. Kaur J, et al. J Anaesthesiol Clin Pharmacol. 2012;28(2):255–257.

4. Scarpa M et al. Mucopolysaccaridosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011;6(72):1-18.

5. Giugliani R et al. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. Genet Mol Biol. 2014;37(2):315-29.

6. Scarpa M. Mucopolysaccharidosis Type II. GeneReviews® – NCBI Bookshelf. 2018;1-19.

7. Osservatorio Malattie Rare (OMAR). Sindrome di Hunter: le domande che il pediatra dovrebbe porsi per la diagnosi. Disponibile al sito: https://www.osservatoriomalattierare.it/malattie-rare/sindrome-di-hunter-mps-ii/16076-sindrome-di-hunter-le-domande-che-il-pediatra-dovrebbe-porsi-per-la-diagnosi. Ultimo accesso in data: 05/10/2020.

Segni e Sintomi

1. Wraith JE et al. Mucopolisaccaridosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 2008;167:267-77.

2. Osservatorio Malattie Rare (OMAR). Sindrome di Hunter: news su farmaci, sperimentazioni, ricerca scientifica e qualità della vita. Disponibile al sito: https://www.osservatoriomalattierare.it/malattie-rare/sindrome-di-hunter-mps-ii. Ultimo accesso in data: 05/10/2020.

4. Scarpa M et al. Mucopolysaccaridosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011;6(72):1-18.

5. Giugliani R et al. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. Genet Mol Biol. 2014;37(2):315-29.

6. Scarpa M. Mucopolysaccharidosis Type II. GeneReviews® – NCBI Bookshelf. 2018;1-19.

7. Osservatorio Malattie Rare (OMAR). Sindrome di Hunter: le domande che il pediatra dovrebbe porsi per la diagnosi. Disponibile al sito: https://www.osservatoriomalattierare.it/malattie-rare/sindrome-di-hunter-mps-ii/16076-sindrome-di-hunter-le-domande-che-il-pediatra-dovrebbe-porsi-per-la-diagnosi. Ultimo accesso in data: 05/10/2020.

8. Link B et al. al. Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey. Orthop Ver. 2010;2(e16):56-64.

Diagnosi

1. Wraith JE et al. Mucopolisaccaridosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008;167:267-77.

4. Scarpa M et al. Mucopolysaccaridosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011;6(72):1-18.

5. Giugliani R et al. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. Genet Mol Biol. 2014;37(2):315-29.

9. Burton B. Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr. 2012;171:631-9.

10. D’Avanzo F, et al. Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment. Int J Mol Sci. 2020;21(1258):1-38.

11. 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):816-22.

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