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A Novel Cohesinopathy Causing Chronic Intestinal Pseudo Obstruction in 2 Siblings and Literature Review.

作者信息

Venkatesh Vybhav, Aneja Aradhana, Seetharaman Keerthivasan, Anushree Neha, Rana Surinder S, Lal Sadhna B

机构信息

Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Department of Gastroenterology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

J Neurogastroenterol Motil. 2021 Jul 30;27(3):436-437. doi: 10.5056/jnm20259.

DOI:10.5056/jnm20259
PMID:34210909
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8266498/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d63a/8266498/b811cd824042/jnm-27-3-436-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d63a/8266498/b811cd824042/jnm-27-3-436-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d63a/8266498/b811cd824042/jnm-27-3-436-f1.jpg

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引用本文的文献

1
Comment to the Description of a Novel Cohesinopathy in Chronic Intestinal Pseudo Obstruction.关于慢性肠假性梗阻中一种新型黏连蛋白病描述的评论
J Neurogastroenterol Motil. 2022 Jul 30;28(3):501-502. doi: 10.5056/jnm22017.

本文引用的文献

1
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.综述：了解印度查谟和克什米尔等资源匮乏地区的罕见遗传病
Front Genet. 2020 Apr 30;11:415. doi: 10.3389/fgene.2020.00415. eCollection 2020.
2
Paediatric Intestinal Pseudo-obstruction: Evidence and Consensus-based Recommendations From an ESPGHAN-Led Expert Group.小儿肠假性梗阻：ESPEN 专家组的循证和共识推荐建议。
J Pediatr Gastroenterol Nutr. 2018 Jun;66(6):991-1019. doi: 10.1097/MPG.0000000000001982.
3
Chronic intestinal pseudo-obstruction in children and adults: diagnosis and therapeutic options.
儿童和成人慢性假性肠梗阻：诊断与治疗选择
Neurogastroenterol Motil. 2017 Jan;29(1). doi: 10.1111/nmo.12945. Epub 2016 Sep 29.
4
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.SGOL1 基因突变导致一种新型黏连蛋白病，影响心脏和肠道节律。
Nat Genet. 2014 Nov;46(11):1245-9. doi: 10.1038/ng.3113. Epub 2014 Oct 5.
5
Long-term outcome of congenital intestinal pseudoobstruction.先天性肠道假性梗阻的长期预后
Dig Dis Sci. 2002 Oct;47(10):2298-305. doi: 10.1023/a:1020199614102.
6
Chronic intestinal pseudoobstruction syndrome: clinical analysis, outcome, and prognosis in 105 children. French-Speaking Group of Pediatric Gastroenterology.慢性肠道假性梗阻综合征：105例儿童的临床分析、结局及预后。法语区儿科胃肠病学组
Dig Dis Sci. 1999 May;44(5):953-9. doi: 10.1023/a:1026656513463.
7
Diagnosis and treatment of chronic intestinal pseudo-obstruction in children: report of consensus workshop.儿童慢性假性肠梗阻的诊断与治疗：共识研讨会报告
J Pediatr Gastroenterol Nutr. 1997 Jan;24(1):102-12. doi: 10.1097/00005176-199701000-00021.