Four Mutations in the SI Gene Are Responsible for the Majority of Clinical Symptoms of CSID

作者: Stefanie Uhrich , Zaining Wu , Jie-Yu Huang , C. Ronald Scott

DOI: 10.1097/01.MPG.0000421408.65257.B5

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摘要: 1. Prader A, Auricchio S, Muerset G. D rchfall infolge hereditaren Mangels an intestinaler Saccharaseaktivitat (Saccharoseintoleranz). Schweizerischen Mediz Wochenschr 1961;91:465–75. 2. Robayo-Torres CC, Opekun AR, Quezada-Calvillo R, et al. 13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients. J Pediatr Gastroenterol Nutr 2009; 48:412–8. 3. Ciccimarra F, Moauro L, Intraluminal mucosal starch deficiency of intestinal isomaltase activities. Res 1972;6:832–9. 4. Dahlqvist A. Assay disaccharidases. Anal Biochem 1968; 22:99–107. 5. Talley NJ, Stanghellini V, Heading RC, Functional gastroduodenal disorders. In: Drossman DA, Corazziari E, al, eds. Rome II: The Gastrointestinal Disorders. 2nd ed. McLean, VA: Degnon Associates; 2000: 302. 6. Karnsakul W, Luginbuehl U, Hahn D, Disaccharidase activities dyspeptic children: biochemical molecular investigations maltaseglucoamylase activity. 2002;35:551–6. 7. Semenza G, Human disaccharidases hereditary disaccharide intolerance. hydrolysis sucrose, isomaltose, palatinose (isomaltulose), a 1,6-alpha-oligosaccharide (isomalto-oligosaccharide) preparation. Clin Invest 1963;42:556–62. 8. Leeds JS, Hopper AD, Sidhu Some patients with irritable bowel syndrome may have exocrine pancreatic insufficiency. Hepatol 2010;8:433–8.

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