SI基因中的四种突变是先天性蔗糖酶 - 异麦芽糖酶缺乏症（CSID）大多数临床症状的病因。 - Suppr

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超能文献

Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.

作者信息

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

机构信息

Department of Pediatrics, University of Washington, Seattle, WA 98195-6320, USA.

出版信息

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S34-5. doi: 10.1097/01.mpg.0000421408.65257.b5.

DOI:10.1097/01.mpg.0000421408.65257.b5

PMID:23103650

Abstract

摘要

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Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.

作者信息

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

机构信息

Department of Pediatrics, University of Washington, Seattle, WA 98195-6320, USA.

出版信息

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S34-5. doi: 10.1097/01.mpg.0000421408.65257.b5.

DOI:10.1097/01.mpg.0000421408.65257.b5

PMID:23103650

Abstract

摘要

相似文献

Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S34-5. doi: 10.1097/01.mpg.0000421408.65257.b5.

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.

Congenital sucrase-isomaltase deficiency: summary of an evaluation in one family.

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2(0 2):S36. doi: 10.1097/01.mpg.0000421409.65257.fc.

Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.

Hum Mutat. 2006 Jan;27(1):119. doi: 10.1002/humu.9392.

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.

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.

Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.

Biochim Biophys Acta Mol Basis Dis. 2017 Mar;1863(3):817-826. doi: 10.1016/j.bbadis.2016.12.017. Epub 2017 Jan 3.

Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience.

Scand J Gastroenterol. 2024 Jun;59(6):647-651. doi: 10.1080/00365521.2024.2324961. Epub 2024 Mar 8.

Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency.

Nutrients. 2020 Dec 22;13(1):9. doi: 10.3390/nu13010009.

Onset of sucrase-isomaltase deficiency in late adulthood.

Am J Gastroenterol. 1999 Aug;94(8):2298-9. doi: 10.1111/j.1572-0241.1999.01320.x.

引用本文的文献

United European Gastroenterol J. 2025 Jun;13(5):773-797. doi: 10.1002/ueg2.70011. Epub 2025 Mar 15.

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.

Presumed Pathogenic Germ Line and Somatic Variants in African American Thyroid Cancer.

Thyroid. 2024 Mar;34(3):378-387. doi: 10.1089/thy.2023.0487. Epub 2024 Jan 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.

Irritable bowel syndrome: treatment based on pathophysiology and biomarkers.

Gut. 2023 Mar;72(3):590-599. doi: 10.1136/gutjnl-2022-328515. Epub 2022 Oct 28.

Carbohydrate Maldigestion and Intolerance.

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

Two Novel Mutations in the Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China.

Front Pediatr. 2021 Dec 2;9:731716. doi: 10.3389/fped.2021.731716. eCollection 2021.

The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency.

Qual Life Res. 2021 Aug;30(8):2329-2338. doi: 10.1007/s11136-021-02819-z. Epub 2021 Mar 27.

Hypomorphic SI genetic variants are associated with childhood chronic loose stools.

PLoS One. 2020 May 20;15(5):e0231891. doi: 10.1371/journal.pone.0231891. eCollection 2020.

Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.

Nutrients. 2019 Sep 25;11(10):2290. doi: 10.3390/nu11102290.