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Cholestasis
https://pubmed.ncbi.nlm.nih.gov/39192447/ cholestasis
Review
Zhonghua Er Ke Za Zhi. 2024 Sep 2;62(9):877-882.
doi: 10.3760/cma.j.cn112140-20240415-00269.
[Congenital bile acid synthetic disorder type 3 caused by CYP7B1 gene variation in 2 cases and literature review]
[Article in Chinese]
C H Wang 1, M Lu 2, J Zhao 3, B Q Huang 1, P P Ye 1, J S Wang 3
Affiliations expand
PMID: 39192447
DOI: 10.3760/cma.j.cn112140-20240415-00269
Abstract
in English, Chinese
https://pubmed.ncbi.nlm.nih.gov/39192447/ cholestasis
Review
Zhonghua Er Ke Za Zhi. 2024 Sep 2;62(9):877-882.
doi: 10.3760/cma.j.cn112140-20240415-00269.
[Congenital bile acid synthetic disorder type 3 caused by CYP7B1 gene variation in 2 cases and literature review]
[Article in Chinese]
C H Wang 1, M Lu 2, J Zhao 3, B Q Huang 1, P P Ye 1, J S Wang 3
Affiliations expand
PMID: 39192447
DOI: 10.3760/cma.j.cn112140-20240415-00269
Abstract
in English, Chinese
https://www.ncbi.nlm.nih.gov/pubmed/29284646 Cholestasis
Pediatrics. 2017 Dec 28. pii: e20163877. doi: 10.1542/peds.2016-3877. [Epub ahead of print]
A Drug Regimen for Progressive Familial Cholestasis Type 2.
Malatack JJ, Doyle D.
Abstract
https://www.ncbi.nlm.nih.gov/pubmed/28027587
Wang KS, Tiao G, Bass LM, Hertel PM, Mogul D, Kerkar N, Clifton M, Azen C, Bull L, Rosenthal P, Stewart D, Superina R, Arnon R, Bozic M, Brandt ML, Dillon PA, Fecteau A, Iyer K, Kamath B, Karpen S, Karrer F, Loomes KM, Mack C, Mattei P, Miethke A, Soltys K, Turmelle YP, West K, Zagory J, Goodhue C, Shneider BL; the Childhood Liver Disease Research Network (ChiLDReN)..
Hepatology. 2016 Dec 27. doi: 10.1002/hep.29019.
Abstract
https://www.ncbi.nlm.nih.gov/pubmed/28027587
Wang KS, Tiao G, Bass LM, Hertel PM, Mogul D, Kerkar N, Clifton M, Azen C, Bull L, Rosenthal P, Stewart D, Superina R, Arnon R, Bozic M, Brandt ML, Dillon PA, Fecteau A, Iyer K, Kamath B, Karpen S, Karrer F, Loomes KM, Mack C, Mattei P, Miethke A, Soltys K, Turmelle YP, West K, Zagory J, Goodhue C, Shneider BL; Childhood Liver Disease Research Network (ChiLDReN).Hepatology. 2017 May;65(5):1645-1654. doi: 10.1002/hep.29019. Epub 2017 Mar 22.
Abstract
https://www.ncbi.nlm.nih.gov/pubmed/28785552
Can J Gastroenterol Hepatol. 2017;2017:9873945. doi: 10.1155/2017/9873945. Epub 2017 Jan 17.
Gold A1, Rogers A2, Cruchley E3, Rankin S4, Parmar A4, Kamath BM5, Avitzur Y5, Ng VL5.
Author information
Erratum in
Corrigendum to "Assessment of School Readiness in Chronic Cholestatic Liver Disease: A Pilot Study Examining Children with and without Liver Transplantation". [Can J Gastroenterol Hepatol. 2017]
Abstract
Background.
https://www.ncbi.nlm.nih.gov/pubmed/29081931 Cholestasis
Pediatr Rep. 2017 Oct 10;9(3):7266. doi: 10.4081/pr.2017.7266. eCollection 2017 Oct 6.
Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene. Bossi G, Giordano G, Rispoli GA, Maggiore G, Naturale M, Marchetti D, Iascone M.
Abstract
https://pubmed.ncbi.nlm.nih.gov/32740536/ Cholestasis
J Pediatr Gastroenterol Nutr. 2020 Jul 30.
doi: 10.1097/MPG.0000000000002874.Online ahead of print.
Cardiovascular Risk Assessment in Children with Chronic Cholestatic Liver Diseases
Kamil Janowski 1, Łukasz Obrycki 2, Mieczysław Litwin 2, Piotr Czubkowski 1, Aldona Wierzbicka-Rucińska 3, Dorota Gliwicz-Miedzińska 1, Irena Jankowska 1, Krzysztof Kostewicz 1, Piotr Socha 1
PMID: 32740536
DOI: 10.1097/MPG.0000000000002874
Abstract
J Pediatr Gastroenterol Nutr. 2012 Aug;55(2):150-6.
Chinese Children With Chronic Intrahepatic Cholestasis and High γ-Glutamyl Transpeptidase: Clinical Features and Association With ABCB4 Mutations.
Fang LJ, Wang XH, Knisely AS, Yu H, Lu Y, Liu LY, Wang JS.
*Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China †Institute of Liver Studies, King's College Hospital Denmark Hill, London, UK.
Abstract
OBJECTIVE: The aims of the present study was to study the significance of ABCB4 mutations in mainland Chinese children with chronic intrahepatic cholestasis and to correlate genetic findings with clinical features and response to ursodeoxycholic acid (UDCA) therapy.
https://pubmed.ncbi.nlm.nih.gov/33414089/ Cholestasis
J Clin Lipidol. 2020 Dec 14;S1933-2874(20)30341-X. doi: 10.1016/j.jacl.2020.12.004. Online ahead of print.
Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants
Ping Zhang 1 , Jing Zhao 2 , Xiao-Min Peng 1 , Yan-Yan Qian 1 , Xue-Mei Zhao 1 , Wen-Hao Zhou 3 , Jian-She Wang 2 , Bing-Bing Wu 4 , Hui-Jun Wang 5
Abstract
Background: CYP27A1 is the disease-causing gene of cerebrotendinous xanthomatosis (CTX). As a treatable lipid storage disease, early treatment can improve the prognosis. However, CTX patients reported in the literature are mostly adult patients; the phenotype spectrum of CTX in the infantile population remains elusive.
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