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本文引用的文献

1
Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.基于下一代测序的新生儿和婴儿胆汁淤积症算法的诊断效果。
J Pediatr. 2019 Aug;211:54-62.e4. doi: 10.1016/j.jpeds.2019.04.016. Epub 2019 May 31.
2
Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice.肝靶向基因治疗可长期纠正小鼠进行性家族性肝内胆汁淤积症 3 型。
J Hepatol. 2019 Jul;71(1):153-162. doi: 10.1016/j.jhep.2019.03.021. Epub 2019 Mar 29.
3
Neonatal cholestasis: emerging molecular diagnostics and potential novel therapeutics.新生儿胆汁淤积症：新兴的分子诊断方法和潜在的新型治疗方法。
Nat Rev Gastroenterol Hepatol. 2019 Jun;16(6):346-360. doi: 10.1038/s41575-019-0132-z.
4
Visceral artery anomalies in patients with Alagille syndrome.阿拉吉列综合征患者的内脏动脉异常。
Pediatr Transplant. 2019 Mar;23(2):e13352. doi: 10.1111/petr.13352. Epub 2019 Jan 9.
5
Placebo-Controlled Randomized Trial of an Intestinal Bile Salt Transport Inhibitor for Pruritus in Alagille Syndrome.一项关于肠道胆汁盐转运抑制剂治疗阿拉吉耶综合征瘙痒症的安慰剂对照随机试验。
Hepatol Commun. 2018 Sep 24;2(10):1184-1198. doi: 10.1002/hep4.1244. eCollection 2018 Oct.
6
Alagille Syndrome.Alagille 综合征。
Clin Liver Dis. 2018 Nov;22(4):625-641. doi: 10.1016/j.cld.2018.06.001. Epub 2018 Aug 22.
7
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.鉴定由 KIF12、PPM1F、USP53、LSR 和 WDR83OS 致病性变异引起的小儿胆汁淤积性肝病的新基因座。
Genet Med. 2019 May;21(5):1164-1172. doi: 10.1038/s41436-018-0288-x. Epub 2018 Sep 25.
8
Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.家族性肝内胆汁淤积症1型和胆盐输出蛋白缺乏症的外科治疗结果。
Hepatol Commun. 2018 Mar 30;2(5):515-528. doi: 10.1002/hep4.1168. eCollection 2018 May.
9
De novo formation of the biliary system by TGFβ-mediated hepatocyte transdifferentiation.TGFβ 介导体肝细胞转分化形成新的胆道系统。
Nature. 2018 May;557(7704):247-251. doi: 10.1038/s41586-018-0075-5. Epub 2018 May 2.
10
A Drug Regimen for Progressive Familial Cholestasis Type 2.进行性家族性肝内胆汁淤积症 2 型的药物治疗方案。
Pediatrics. 2018 Jan;141(1). doi: 10.1542/peds.2016-3877.

个性化医疗时代的遗传性胆汁淤积性疾病

Inherited Cholestatic Diseases in the Era of Personalized Medicine.

作者信息

Goldberg Alyssa, Mack Cara L

机构信息

Department of Pediatrics, Section of Pediatric Gastroenterology, Hepatology & Nutrition Children's Hospital Colorado, Digestive Health Institute-Pediatric Liver Center, University of Colorado School of Medicine Aurora CO.

Hewit/Andrews Chair in Pediatric Liver Diseases University of Colorado School of Medicine Aurora CO.

出版信息

Clin Liver Dis (Hoboken). 2020 Apr 4;15(3):105-109. doi: 10.1002/cld.872. eCollection 2020 Mar.

DOI:10.1002/cld.872
PMID:32257121
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7128029/
Abstract

http://aasldpubs.onlinelibrary.wiley.com/hub/journal/10.1002/(ISSN)2046-2484/video/15-3-reading-mack a video presentation of this article.

摘要

http://aasldpubs.onlinelibrary.wiley.com/hub/journal/10.1002/(ISSN)2046-2484/video/15-3-reading-mack 本文的视频展示。