{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T16:29:26Z","timestamp":1777307366381,"version":"3.51.4"},"reference-count":26,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,12,19]],"date-time":"2019-12-19T00:00:00Z","timestamp":1576713600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.es","elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Anales de Pediatr\u00eda"],"published-print":{"date-parts":[[2020,10]]},"DOI":"10.1016\/j.anpedi.2019.05.019","type":"journal-article","created":{"date-parts":[[2020,1,23]],"date-time":"2020-01-23T08:27:34Z","timestamp":1579768054000},"page":"222-227","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Nuevas mutaciones asociadas a la enfermedad de Hirschsprung"],"prefix":"10.1016","volume":"93","author":[{"given":"Marta","family":"Lorente-Ros","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ane Miren","family":"Andr\u00e9s","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alba","family":"S\u00e1nchez-Gal\u00e1n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cinthia","family":"Ami\u00f1oso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sixto","family":"Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jes\u00fas","family":"Solera Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.anpedi.2019.05.019_bib0135","first-page":"640","article-title":"An embryological point of view on associated congenital anomalies of children with Hirschsprung disease","volume":"116","author":"Slavikova","year":"2015","journal-title":"Bratisl Lek Listy."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0140","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.trsl.2013.03.001","article-title":"The developmental etiology and pathogenesis of Hirschsprung disease","volume":"162","author":"Butler Tjaden","year":"2013","journal-title":"Transl Res."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0145","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1053\/j.sempedsurg.2010.03.004","article-title":"Hirschsprung's disease","volume":"19","author":"Kenny","year":"2010","journal-title":"Semin Pediatr Surg."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0150","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1053\/j.sempedsurg.2008.07.005","article-title":"Hirschsprung disease","volume":"17","author":"Haricharan","year":"2008","journal-title":"Semin Pediatr Surg."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0155","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1016\/j.earlhumdev.2008.09.007","article-title":"Hirschsprung's disease: Current management and prospects for transplantation of enteric nervous system progenitor cells","volume":"84","author":"Theocharatos","year":"2008","journal-title":"Early Hum Dev."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0160","series-title":"Enfermedad de Hirschsprung. Protocolos diagn\u00f3stico-terap\u00e9uticos de Gastroenterolog\u00eda, Hepatopat\u00eda y Nutrici\u00f3n Pedi\u00e1trica. SEGHNP-AEP","first-page":"47","author":"De Manueles","year":"2010"},{"key":"10.1016\/j.anpedi.2019.05.019_bib0165","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.2007.053959","article-title":"Hirschsprung disease, associated syndromes and genetics: A review","volume":"45","author":"Amiel","year":"2008","journal-title":"J Med Genet."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0170","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1053\/j.sempedsurg.2009.11.015","article-title":"Genetics of Hirschsprung disease and anorectal malformations","volume":"19","author":"Mundt","year":"2010","journal-title":"Semin Pediatr Surg."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0175","doi-asserted-by":"crossref","first-page":"4937","DOI":"10.3748\/wjg.v17.i45.4937","article-title":"Genetic interactions and modifier genes in Hirschsprung's disease","volume":"17","author":"Wallace","year":"2011","journal-title":"World J Gastroenterol."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0180","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1007\/s00383-012-3175-6","article-title":"Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease","volume":"28","author":"Moore","year":"2012","journal-title":"Pediatr Surg Int"},{"key":"10.1016\/j.anpedi.2019.05.019_bib0185","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1007\/s00383-013-3361-1","article-title":"Hirschsprung's disease associated with Down syndrome: A meta-analysis of incidence, functional outcomes and mortality","volume":"29","author":"Friedmacher","year":"2015","journal-title":"Pediatr Surg Int."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0190","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/S1109-9666(16)30019-7","article-title":"Haddad syndrome","volume":"57","author":"Tsoutsinos","year":"2016","journal-title":"Hellenic J Cardiol"},{"key":"10.1016\/j.anpedi.2019.05.019_bib0195","article-title":"Hirschsprung's disease associated with Mowat-Wilson syndrome","volume":"2014","author":"Patel","year":"2014","journal-title":"BMJ Case Rep"},{"key":"10.1016\/j.anpedi.2019.05.019_bib0200","article-title":"In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. Multiple endocrine neoplasia type 2","author":"Eng","year":"1999","journal-title":"GeneReviews [Internet]"},{"key":"10.1016\/j.anpedi.2019.05.019_bib0205","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/s00383-006-1655-2","article-title":"The contribution of associated congenital anomalies in understanding Hirschsprung's disease","volume":"22","author":"Moore","year":"2006","journal-title":"Pediatr Surg Int."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0210","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1007\/s00383-013-3352-2","article-title":"Association of Hirschsprung's disease and anorectal malformation: A systematic review","volume":"29","author":"Hofmann","year":"2013","journal-title":"Pediatr Surg Int."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0215","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1007\/s00383-014-3529-3","article-title":"Congenital anomalies of the kidney and urinary tract (CAKUT) associated with Hirschsprung's disease: A systematic review","volume":"30","author":"Hofmann","year":"2014","journal-title":"Pediatr Surg Int."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0220","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1007\/s00383-009-2439-2","article-title":"A meta-analysis of clinical outcome in patients with total intestinal aganglionosis","volume":"25","author":"Ruttenstock","year":"2009","journal-title":"Pediatr Surg Int."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0225","unstructured":"Leiden Open Variation Database (LOVD). LOVD v.3.0 [consultado 15 Feb 2018]. Disponible en: http:\/\/www.lovd.nl\/3.0"},{"key":"10.1016\/j.anpedi.2019.05.019_bib0230","unstructured":"American College of Medical Genetics and Genomics (ACMG) [consultado 15 Feb 2018]. Disponible en: https:\/\/www.acmg.net\/"},{"key":"10.1016\/j.anpedi.2019.05.019_bib0235","unstructured":"ClinVar. National Center for Biotechnology Information [consultado 15 Feb 2018]. Disponible en: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/"},{"key":"10.1016\/j.anpedi.2019.05.019_bib0240","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1007\/s00431-011-1434-5","article-title":"PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature","volume":"170","author":"Kwon","year":"2011","journal-title":"Eur J Pediatr."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0245","doi-asserted-by":"crossref","first-page":"e35404","DOI":"10.1371\/journal.pone.0054043","article-title":"Contributions of PHOX2B in the pathogenesis of Hirschsprung disease","volume":"8","author":"Fern\u00e1ndez","year":"2013","journal-title":"PLoS One."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0250","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1007\/s00383-008-2137-5","article-title":"Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET","volume":"24","author":"Moore","year":"2008","journal-title":"Pediatr Surg Int."},{"issue":"Suppl 1","key":"10.1016\/j.anpedi.2019.05.019_bib0255","doi-asserted-by":"crossref","first-page":"63","DOI":"10.6061\/clinics\/2012(Sup01)12","article-title":"The Hirschsprung's-multiple endocrine neoplasia connection","volume":"67","author":"Moore","year":"2012","journal-title":"Clinics (Sao Paulo)."},{"key":"10.1016\/j.anpedi.2019.05.019_bib0260","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1136\/gut.43.4.542","article-title":"Oncological implications of RET genes mutations in Hirschsprung's disease","volume":"43","author":"Sijmons","year":"1998","journal-title":"Gut."}],"container-title":["Anales de Pediatr\u00eda"],"original-title":[],"language":"es","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1695403319304242?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1695403319304242?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T14:50:12Z","timestamp":1761663012000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1695403319304242"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["S1695403319304242"],"URL":"https:\/\/doi.org\/10.1016\/j.anpedi.2019.05.019","relation":{},"ISSN":["1695-4033"],"issn-type":[{"value":"1695-4033","type":"print"}],"subject":[],"published":{"date-parts":[[2020,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Nuevas mutaciones asociadas a la enfermedad de Hirschsprung","name":"articletitle","label":"Article Title"},{"value":"Anales de Pediatr\u00eda","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.anpedi.2019.05.019","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Asociaci\u00f3n Espa\u00f1ola de Pediatr\u00eda. Published by Elsevier Espa\u00f1a, S.L.U.","name":"copyright","label":"Copyright"}]}}