Pubblicazioni e Link utili

Pubblicazioni

McLaughlin D, Puri P. Familial Hirschsprung’s disease: a systemic review. Pediatr Surg Int. 2015;31:695-700. https://www.ncbi.nlm.nih.gov/pubmed/26179259

Burkardt DD, Graham JM Jr., Short SS, Frykman PK. Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care physician. Clin Pediatr (Phila). 2014;53:71-81. https://www.ncbi.nlm.nih.gov/pubmed/24002048

Frykman PK, Short SS. Hirschsprung-associated enterocolitis: prevention and therapy. Semin Pediatr Surg. 2012;21:328-335. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3462485/

Ralls MW, Coran AG, Teitelbaum DH. Reoperative surgery for Hirschsprung disease. Semin Pediatr Surg. 2012;21:354-363. https://www.ncbi.nlm.nih.gov/pubmed/22985841

Demehri FR, Halaweish IF, Coran AG, Teitelbaum DH. Hirschsprung-associated enterocolitis: pathogenesis, treatment and prevention. Pediatr Surg Int. 2013;29:873-881. https://www.ncbi.nlm.nih.gov/pubmed/23913261

Teitelbaum DH, Coran AG. Primary pull-through for Hirschsprung’s disease. Semin Neonatol. 2003;8:233-41. https://www.ncbi.nlm.nih.gov/pubmed/15001142

Stewart DR, von Allmen D. The genetics of Hirschsprung disease. Gastroenterol Clin North Am. 2003;32:819-837. https://www.ncbi.nlm.nih.gov/pubmed/14562576

Elhalaby EA, Hashish A, Elbarbary MM, et al. Transanal one-stage endorectal pull-through for hirschsprung’s disease: a multicenter study. J Pediatr Surg. 2004;39:345-51. https://www.ncbi.nlm.nih.gov/pubmed/15017550

Puri P, Shinkai T. Pathogenesis of Hirschsprung’s disease and its variants: recent progress. Semin Pediatr Surg. 2004;13:18-24. https://www.ncbi.nlm.nih.gov/pubmed/14765367

Tomita R, Ikeda T, Fujisaki S, et al. Upper gut motility of Hirschsprung’s disease and its allied disorders in adults. Hepatogastroenterology. 2003;50:1959-62. https://www.ncbi.nlm.nih.gov/pubmed/14696442

Griseri P, Pesce B, Patrone G, et al. A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease. Am J Hum Genet. 2002;71:969-74. https://www.ncbi.nlm.nih.gov/pubmed/12214285

Romeo G,Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kääriäinen H & Martucciello G (1994). Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung’s disease. Nature 367 (6461): 377–378. doi:10.1038/367377a0

Materiale dal WEB

National Institute of Diabetes and Digestive and Kidney Diseases. Hirschsprung Disease. September 2015. Disponibile al link: https://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/hirschsprung-disease/Pages/ez.aspx

Parisi MA. Hirschsprung Disease Overview. 2002 Jul 12 [Updated 2015 Oct 1]. In: Pagon RA, Bird TD, Dolan CR, et al., GeneReviews. Internet. Seattle, WA: University of Washington, Seattle; 1993-. Disponibile al link: https://www.ncbi.nlm.nih.gov/books/NBK1439/

Kenny S. Hirschsprung Disease. Orphanet Encyclopedia, September 2012. Disponibile al link: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=388

University of California San Francisco Pediatric Surgery. Hirschsprung’s Disease. Disponibile al link: http://pedsurg.ucsf.edu/conditions–procedures/hirschsprungs-disease.aspx

Cincinnati Children’s Hospital Medical Center. Hirschsprung Disease. June 2015. Disponibile al link: https://www.cincinnatichildrens.org/health/h/hirschsprung

Wesson DE. Congenital aganglionic megacolon (Hirschsprung disease. UpToDate, Inc. 2015 Jul 28. Disponibile al link: http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease

LINK utili:

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=388&lng=IT
https://it.wikipedia.org/wiki/Malattia_di_Hirschsprung
https://it.wikipedia.org/wiki/Enterocolite_di_Hirschsprung
https://rarediseases.org/rare-diseases/hirschsprungs-disease/
http://www.eapsa.org/parents/conditions/f-o/hirschsprung-disease/

Associazioni famiglie pazienti Hirschsprung in Europa

Germania https://soma-ev.de/tr/soma-ev/