{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T12:06:49Z","timestamp":1790683609078,"version":"4.1.0"},"reference-count":14,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,3,22]],"date-time":"2023-03-22T00:00:00Z","timestamp":1679443200000},"content-version":"am","delay-in-days":414,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice &amp; Research Clinical Gastroenterology"],"published-print":{"date-parts":[[2022,2]]},"DOI":"10.1016\/j.bpg.2022.101785","type":"journal-article","created":{"date-parts":[[2022,2,5]],"date-time":"2022-02-05T11:37:58Z","timestamp":1644061078000},"page":"101785","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"special_numbering":"C","title":["Congenital disorders of intestinal digestion and absorption (sugars, proteins, lipids, ions)"],"prefix":"10.1016","volume":"56-57","author":[{"given":"Noel","family":"Peretti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Mas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bpg.2022.101785_bib1","doi-asserted-by":"crossref","first-page":"5056","DOI":"10.1074\/jbc.M808128200","article-title":"Slc2a5 (Glut5) is essential for the absorption of fructose in the intestine and generation of fructose-induced hypertension","volume":"284","author":"Barone","year":"2009","journal-title":"J Biol Chem"},{"key":"10.1016\/j.bpg.2022.101785_bib2","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1097\/MPG.0b013e3181fd1315","article-title":"Effect of age on fructose malabsorption in children presenting with gastrointestinal symptoms","volume":"52","author":"Jones","year":"2011","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"11","key":"10.1016\/j.bpg.2022.101785_bib3","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1111\/jpc.14702","article-title":"Literature review on congenital glucose-galactose malabsorption from 2001 to 2019","volume":"56","author":"Wang","year":"2020","journal-title":"J Paediatr Child Health"},{"key":"10.1016\/j.bpg.2022.101785_bib4","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/j.1399-0004.2010.01440.x","article-title":"Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish","volume":"9","author":"Xin","year":"2011","journal-title":"Clin Genet"},{"key":"10.1016\/j.bpg.2022.101785_bib5","doi-asserted-by":"crossref","first-page":"S13","DOI":"10.1097\/01.mpg.0000421402.57633.4b","article-title":"Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex","volume":"55","author":"Naim","year":"2012","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.bpg.2022.101785_bib6","doi-asserted-by":"crossref","first-page":"S7","DOI":"10.1097\/01.mpg.0000421401.57633.90","article-title":"Clinical aspects and treatment of congenital sucrase-isomaltase deficiency","volume":"55","author":"Treem","year":"2012","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.bpg.2022.101785_bib7","first-page":"1","article-title":"Congenital sucrase-isomaltase deficiency","volume":"21","author":"Treem","year":"1995","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"Suppl 2","key":"10.1016\/j.bpg.2022.101785_bib8","first-page":"S34","article-title":"Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID","volume":"55","author":"Uhrich","year":"2012","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"2","key":"10.1016\/j.bpg.2022.101785_bib9","doi-asserted-by":"crossref","first-page":"461","DOI":"10.3390\/nu11020461","article-title":"Congenital lactase deficiency: mutations, functional and biochemical implications, and future perspectives","volume":"11","author":"Wanes","year":"2019","journal-title":"Nutrients"},{"key":"10.1016\/j.bpg.2022.101785_bib10","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1086\/338456","article-title":"Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency","volume":"70","author":"Holzinger","year":"2002","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.bpg.2022.101785_bib11","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.ymgme.2009.02.003","article-title":"Chylomicron retention disease: a long term study of two cohorts","volume":"97","author":"Peretti","year":"2009","journal-title":"Mol Genet Metabol"},{"issue":"6","key":"10.1016\/j.bpg.2022.101785_bib12","doi-asserted-by":"crossref","first-page":"1912","DOI":"10.1053\/j.gastro.2020.11.040","article-title":"Medical advisory panel. New classification and management of abetalipoproteinemia and related disorders","volume":"160","author":"Bredefeld","year":"2021","journal-title":"Gastroenterology"},{"issue":"1","key":"10.1016\/j.bpg.2022.101785_bib13","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1038\/s41390-020-01251-2","article-title":"Congenital chloride diarrhea clinical features and management: a systematic review","volume":"90","author":"Di Meglio","year":"2021","journal-title":"Pediatr Res"},{"key":"10.1016\/j.bpg.2022.101785_bib14","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1111\/j.1365-2036.2009.04197.x","article-title":"Review article: the clinical management of congenital chloride diarrhoea","volume":"31","author":"Wedenoja","year":"2010","journal-title":"Aliment Pharmacol Ther"}],"container-title":["Best Practice &amp; Research Clinical Gastroenterology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521691822000014?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521691822000014?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T17:03:05Z","timestamp":1761498185000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521691822000014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2]]},"references-count":14,"alternative-id":["S1521691822000014"],"URL":"https:\/\/doi.org\/10.1016\/j.bpg.2022.101785","relation":{},"ISSN":["1521-6918"],"issn-type":[{"value":"1521-6918","type":"print"}],"subject":[],"published":{"date-parts":[[2022,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Congenital disorders of intestinal digestion and absorption (sugars, proteins, lipids, ions)","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Gastroenterology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bpg.2022.101785","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"101785"}}