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本文引用的文献

1
Congenital chloride diarrhea in patient with SLC26A2 mutation - analysis of the clinical phenotype and differential diagnosis.先天性氯性腹泻伴 SLC26A2 基因突变患者的临床表型分析及鉴别诊断。
Pediatr Endocrinol Diabetes Metab. 2021;27(1):51-56. doi: 10.5114/pedm.2020.97465.
2
Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases.先天性腹泻疾病(先天性氯泻和先天性钠泻)两种类型的产前生化诊断:12 例系列病例。
Prenat Diagn. 2021 Mar;41(4):434-439. doi: 10.1002/pd.5878. Epub 2021 Jan 3.
3
Congenital chloride diarrhea clinical features and management: a systematic review.先天性氯性腹泻的临床特征与管理:系统综述。
Pediatr Res. 2021 Jul;90(1):23-29. doi: 10.1038/s41390-020-01251-2. Epub 2020 Nov 10.
4
Diagnosis of Hirschsprung Disease.先天性巨结肠症的诊断
Pediatr Dev Pathol. 2020 Jan-Feb;23(1):8-22. doi: 10.1177/1093526619892351. Epub 2019 Dec 2.
5
Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.先天性氯离子腹泻的临床特征、分子遗传学和长期预后:日本全国性研究。
J Pediatr. 2019 Nov;214:151-157.e6. doi: 10.1016/j.jpeds.2019.07.039. Epub 2019 Aug 30.
6
Congenital chloride losing diarrhea: A single center experience in a highly consanguineous population.先天性氯丢失性腹泻:高度近亲通婚人群中的单中心经验
Medicine (Baltimore). 2019 May;98(22):e15928. doi: 10.1097/MD.0000000000015928.
7
Congenital Chloride Diarrhea (CCD): A Case Report of CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging (MRI).先天性氯腹泻(CCD):一例通过产前超声和磁共振成像(MRI)疑似CCD的病例报告
Am J Case Rep. 2017 Jun 24;18:707-713. doi: 10.12659/ajcr.903433.
8
Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene.先天性氯化物腹泻——SLC26A3基因的新型突变
Indian J Pediatr. 2016 Aug;83(8):859-61. doi: 10.1007/s12098-015-1944-7. Epub 2015 Dec 5.
9
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.基于临床特征对巴特综合征、吉特林综合征及假性巴特/吉特林综合征进行鉴别诊断。
Genet Med. 2016 Feb;18(2):180-8. doi: 10.1038/gim.2015.56. Epub 2015 Apr 16.
10
Diagnostic Accuracy of Prenatal Ultrasound in Identifying Jejunal and Ileal Atresia.产前超声诊断空肠和回肠闭锁的准确性
Fetal Diagn Ther. 2015;38(2):142-6. doi: 10.1159/000368603. Epub 2015 Jan 21.

Late Diagnosis of Congenital Chloride Diarrhea Mimicking Hirschsprung's Disease.

作者信息

Çelik Ali Tugay, Barış Zeren, Aydemir Yusuf, Kocagil Sinem

机构信息

Department of Pediatrics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.

Department of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.

出版信息

Clin Pediatr (Phila). 2024 Nov;63(11):1494-1497. doi: 10.1177/00099228241228116. Epub 2024 Feb 2.

DOI:10.1177/00099228241228116
PMID:38303675
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11487898/
Abstract
摘要