ABCB11基因中的一种新型变异（p.Leu1054Arg）导致进行性家族性肝内胆汁淤积症（PFIC）并伴有先天性甲状腺功能减退症。 - Suppr

Suppr

超能文献

A Novel Variant (p.Leu1054Arg) in ABCB11 Presenting with Progressive Familial Intrahepatic Cholestasis (PFIC) with Congenital Hypothyroidism.

作者信息

Agarwal Saurabh, Rajvanshi Nikhil, Goyal Jagdish Prasad, Kumar Prawin

机构信息

Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India.

出版信息

Indian J Pediatr. 2024 Nov;91(11):1194. doi: 10.1007/s12098-024-05271-2. Epub 2024 Sep 14.

DOI:10.1007/s12098-024-05271-2

PMID:39271630

Abstract

摘要

相似文献

A Novel Variant (p.Leu1054Arg) in ABCB11 Presenting with Progressive Familial Intrahepatic Cholestasis (PFIC) with Congenital Hypothyroidism.

Indian J Pediatr. 2024 Nov;91(11):1194. doi: 10.1007/s12098-024-05271-2. Epub 2024 Sep 14.

ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.

Liver Int. 2020 Nov;40(11):2788-2796. doi: 10.1111/liv.14642. Epub 2020 Oct 13.

Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.

Ann Hum Genet. 2024 May;88(3):194-211. doi: 10.1111/ahg.12542. Epub 2023 Dec 18.

Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis.

World J Gastroenterol. 2009 Sep 14;15(34):4339-42. doi: 10.3748/wjg.15.4339.

Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11.

Pediatr Dev Pathol. 2022 Mar-Apr;25(2):174-179. doi: 10.1177/10935266211036084. Epub 2021 Aug 24.

Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.

Gastroenterol Hepatol. 2022 Oct;45(8):585-592. doi: 10.1016/j.gastrohep.2021.12.005. Epub 2021 Dec 20.

Progressive Familial Intrahepatic Cholestasis.

Clin Liver Dis. 2018 Nov;22(4):657-669. doi: 10.1016/j.cld.2018.06.003. Epub 2018 Aug 3.

Overview of Progressive Familial Intrahepatic Cholestasis.

Clin Liver Dis. 2022 Aug;26(3):371-390. doi: 10.1016/j.cld.2022.03.003.

Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis.

Clin Rev Allergy Immunol. 2015 Jun;48(2-3):273-84. doi: 10.1007/s12016-014-8457-4.

Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.

Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):541-53. doi: 10.1016/j.bpg.2010.07.010.

本文引用的文献

Extrahepatic manifestations of progressive familial intrahepatic cholestasis syndromes: Presentation of a case series and literature review.

Liver Int. 2022 May;42(5):1084-1096. doi: 10.1111/liv.15200. Epub 2022 Mar 15.

Systematic review of progressive familial intrahepatic cholestasis.

Clin Res Hepatol Gastroenterol. 2019 Feb;43(1):20-36. doi: 10.1016/j.clinre.2018.07.010. Epub 2018 Sep 17.

Progressive Familial Intrahepatic Cholestasis (PFIC) in Indian Children: Clinical Spectrum and Outcome.

J Clin Exp Hepatol. 2016 Sep;6(3):203-208. doi: 10.1016/j.jceh.2016.05.003. Epub 2016 May 24.

Hypothyroidism Associated with ATP8B1 Deficiency.

J Pediatr. 2015 Dec;167(6):1334-9.e1. doi: 10.1016/j.jpeds.2015.08.037. Epub 2015 Sep 15.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验