{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T11:54:07Z","timestamp":1770292447936,"version":"3.49.0"},"reference-count":22,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gut"],"published-print":{"date-parts":[[1990,12]]},"abstract":"<jats:p>Two brothers of Arab origin, aged 15 and 10 years, with isolated congenital lipase and colipase deficiency are described. Both were normally developed with a history of passing greasy stools since early infancy. Both have remarkable steatorrhoea and low serum carotene and vitamin E concentrations. After exocrine pancreatic stimulation, lipase and colipase activities in the duodenal fluid were almost completely absent, while amylase trypsin, bile salt, and pH values were normal. No other aetiology for exocrine pancreatic insufficiency was found. This is the first report of congenital combined lipase and colipase deficiency in two brothers.<\/jats:p>","DOI":"10.1136\/gut.31.12.1416","type":"journal-article","created":{"date-parts":[[2007,9,18]],"date-time":"2007-09-18T17:41:31Z","timestamp":1190137291000},"page":"1416-1418","source":"Crossref","is-referenced-by-count":24,"title":["Isolated lipase and colipase deficiency in two brothers."],"prefix":"10.1136","volume":"31","author":[{"given":"M","family":"Ligumsky","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Granot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Branski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Stankiewicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Goldstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,12,1]]},"reference":[{"key":"ref_1","first-page":"556","article-title":"Development of functional response in human exocrine pancreas","volume":"66","author":"Lebenthal, E.; Lee, P.C.","year":"1980","unstructured":"Lebenthal E, Lee PC. 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Z Gastroenterol 1967; 5: 239-46."},{"issue":"24","key":"ref_12","first-page":"807","article-title":"Diarrhee chronique par absence de lipase pancreatique","volume":"1969","author":"Larbre, F.; Hartman, E.; Cotton, J.B.; Mathieu, M.; Charrat, A.; Moreau, P.","unstructured":"Larbre F, Hartman E, Cotton JB, Mathieu M, Charrat A, Moreau P. Diarrhee chronique par absence de lipase pancreatique. Pediatrie 1969; 24: 807-13.","journal-title":"Pediatrie"},{"key":"ref_13","first-page":"992","article-title":"Steatorrhee chronique de l'enfant par insufficience congenitale de la lipase pancreatique","volume":"28","author":"Verger, P.; Babin, R.; Guillard, J.M.; Babin, J.P.; Cixous, P.; Laigle, J.L.","year":"1971","unstructured":"Verger P, Babin R, Guillard JM, Babin JP, Cixous P, Laigle JL. Steatorrhee chronique de l'enfant par insufficience congenitale de la lipase pancreatique. 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PediatrRes 1984; 18: 402-9.","journal-title":"PediatrRes"},{"key":"ref_22","first-page":"1460","article-title":"Gastric lipase: localization","volume-title":"human stomach. Gastroenterology 1988; 95","author":"Abrams, C.K.; Hamosh, M.; Lee, T.C.","unstructured":"Abrams CK, Hamosh M, Lee TC, et al. Gastric lipase: localization in human stomach. 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