Letter to the Editor in response to: "ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis".
作者信息
Pepe Angela, Mandato Claudia
机构信息
Pediatric Unit and Cystic Fibrosis Centre San Carlo Hospital Potenza Italy.
Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", Pediatrics Section University of Salerno Baronissi Salerno Italy.
出版信息
JPGN Rep. 2025 Mar 17;6(2):213. doi: 10.1002/jpr3.70011. eCollection 2025 May.
Abstract
摘要
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Letter to the Editor in response to: "ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis".致编辑的信：回应《ZFYVE19基因突变：进行性家族性肝内胆汁淤积症的一种新变体》
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本文引用的文献
1
ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis.ZFYVE19基因突变：进行性家族性肝内胆汁淤积症的一种新型变体。
JPGN Rep. 2024 Aug 6;5(4):552-556. doi: 10.1002/jpr3.12111. eCollection 2024 Nov.
2
Case Report: Add-on treatment with odevixibat in a new subtype of progressive familial intrahepatic cholestasis broadens the therapeutic horizon of genetic cholestasis.病例报告：odevixibat用于进行性家族性肝内胆汁淤积症新亚型的附加治疗拓宽了遗传性胆汁淤积症的治疗视野。
Front Pediatr. 2023 Feb 14;11:1061535. doi: 10.3389/fped.2023.1061535. eCollection 2023.
3
Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.奥贝胆酸治疗进行性家族性肝内胆汁淤积症：一项随机、安慰剂对照、3 期临床试验。
Lancet Gastroenterol Hepatol. 2022 Sep;7(9):830-842. doi: 10.1016/S2468-1253(22)00093-0. Epub 2022 Jul 1.
4
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.一个与新生儿胆汁淤积和纤毛功能障碍相关的 ZFYVE19 基因突变：一例伴有新的致病性变异的病例报告。
Orphanet J Rare Dis. 2021 Apr 14;16(1):179. doi: 10.1186/s13023-021-01775-8.
5
Biallelic loss-of-function mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.双等位基因功能丧失突变与先天性肝纤维化、硬化性胆管炎和高 γ-谷氨酰转移酶（GGT）胆汁淤积症有关。
J Med Genet. 2021 Aug;58(8):514-525. doi: 10.1136/jmedgenet-2019-106706. Epub 2020 Jul 31.
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