先天性蔗糖酶-异麦芽糖酶缺乏症的临床特点与治疗 - Suppr

Clinical aspects and treatment of congenital sucrase-isomaltase deficiency.

作者信息

Treem William R

机构信息

Established Products Division, Johnson and Johnson Pharmaceutical Research and Development, 1125 Trenton-HarbourtonRd, Titusville, NJ 08560, USA.

出版信息

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S7-13. doi: 10.1097/01.mpg.0000421401.57633.90.

DOI:10.1097/01.mpg.0000421401.57633.90

PMID:23103658

Abstract

摘要

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Clinical aspects and treatment of congenital sucrase-isomaltase deficiency.

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S7-13. doi: 10.1097/01.mpg.0000421401.57633.90.

Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex.

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S13-20. doi: 10.1097/01.mpg.0000421402.57633.4b.

50 years of progress since congenital sucrase-isomaltase deficiency recognition.

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S2-7. doi: 10.1097/01.mpg.0000421400.50010.2a.

Starch digestion and patients with congenital sucrase-isomaltase deficiency.

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S24-8. doi: 10.1097/01.mpg.0000421404.42386.2d.

Inhibition of maltase-glucoamylase activity to hydrolyze α-1,4 linkages by the presence of undigested sucrose.

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S45-7. doi: 10.1097/01.mpg.0000421415.95751.f7.

Direct starch digestion by sucrase-isomaltase and maltase-glucoamylase.

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S43-5. doi: 10.1097/01.mpg.0000421414.95751.be.

Introduction to the 8th Starch Digestion Consortium Workshop.

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S1-2. doi: 10.1097/MPG.0b013e318272fee7.

Research progress reported at the 50th Anniversary of the Discovery of Congenital Sucrase-Isomaltase Deficiency Workshop.

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2(0 2):S1. doi: 10.1097/01.mpg.0000422151.38401.69.

Congenital sucrase-isomaltase deficiency.

J Pediatr Gastroenterol Nutr. 1995 Jul;21(1):1-14. doi: 10.1097/00005176-199507000-00001.

Poor starch digestion in children with CSID and recurrent abdominal pain.

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S32-4. doi: 10.1097/01.mpg.0000421407.88128.5c.

引用本文的文献

Severe Hypercalcemia in an Infant With Transient Disaccharidase Deficiency.

JCEM Case Rep. 2024 Oct 23;2(11):luae190. doi: 10.1210/jcemcr/luae190. eCollection 2024 Nov.

The sucrose challenge symptoms test optimized for diagnosis of congenital sucrase isomaltase deficiency.

PLoS One. 2024 Sep 18;19(9):e0310705. doi: 10.1371/journal.pone.0310705. eCollection 2024.

Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations.

Turk J Gastroenterol. 2024 Apr;35(4):343-349. doi: 10.5152/tjg.2024.23250.

Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.

Am J Clin Nutr. 2024 Jul;120(1):17-33. doi: 10.1016/j.ajcnut.2024.05.004. Epub 2024 May 9.

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Nutrients. 2023 Nov 30;15(23):4969. doi: 10.3390/nu15234969.

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Indian J Pediatr. 2024 Jun;91(6):590-597. doi: 10.1007/s12098-023-04737-z. Epub 2023 Jul 22.

Intestinal Disaccharidase Deficiency in Adults: Evaluation and Treatment.

Curr Gastroenterol Rep. 2023 Jun;25(6):134-139. doi: 10.1007/s11894-023-00870-z. Epub 2023 May 18.

Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives.

Appl Clin Genet. 2023 Mar 23;16:31-39. doi: 10.2147/TACG.S401712. eCollection 2023.

The genetics of monogenic intestinal epithelial disorders.

Hum Genet. 2023 May;142(5):613-654. doi: 10.1007/s00439-022-02501-5. Epub 2022 Nov 23.

Carbohydrate Maldigestion and Intolerance.

Nutrients. 2022 May 4;14(9):1923. doi: 10.3390/nu14091923.

Clinical aspects and treatment of congenital sucrase-isomaltase deficiency.

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