威尔逊氏病基因与表型多样性。 - Suppr

The Wilson's disease gene and phenotypic diversity.

作者信息

Riordan S M, Williams R

机构信息

Institute of Hepatology, University College London and University College London Hospitals, UK.

出版信息

J Hepatol. 2001 Jan;34(1):165-71. doi: 10.1016/s0168-8278(00)00028-3.

DOI:10.1016/s0168-8278(00)00028-3

PMID:11211896

Abstract

摘要

相似文献

The Wilson's disease gene and phenotypic diversity.

J Hepatol. 2001 Jan;34(1):165-71. doi: 10.1016/s0168-8278(00)00028-3.

Muddying the water: Wilson's disease challenges will not soon disappear.

Gastroenterology. 1997 Jul;113(1):348-50.

Overcoming obstacles to the diagnosis of Wilson's disease.

Gastroenterology. 1997 Jul;113(1):350-3.

Severe hepatic Wilson's disease in preschool-aged children.

J Pediatr. 2000 Nov;137(5):719-22. doi: 10.1067/mpd.2000.108569.

Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?

Neurol Sci. 2004 Apr;25(1):18-20. doi: 10.1007/s10072-004-0220-z.

A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase.

Gene. 2014 Mar 15;538(1):204-6. doi: 10.1016/j.gene.2013.10.044. Epub 2013 Oct 27.

Biological functions of ceruloplasmin and their deficiency caused by mutation in genes regulating copper and iron metabolism.

Bull Exp Biol Med. 2000 Aug;130(8):719-27. doi: 10.1007/BF02766076.

Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

Hum Mutat. 2000;15(5):454-62. doi: 10.1002/(SICI)1098-1004(200005)15:5<454::AID-HUMU7>3.0.CO;2-J.

ATP7b gene and Wilson's disease.

J Gastroenterol Hepatol. 2004 Mar;19(3):343. doi: 10.1111/j.1440-1746.2003.03389.x.

[Expression characters of ATP7B mRNA in liver tissue of patients with Wilson's disease].

Zhonghua Gan Zang Bing Za Zhi. 2003 Feb;11(2):99.

引用本文的文献

Clinical Characteristics, Treatment Effects and Risk Factors of Liver Cirrhosis in Patients with Wilson's Disease Hepatic Type.

J Clin Transl Hepatol. 2025 Apr 28;13(4):306-314. doi: 10.14218/JCTH.2024.00453. Epub 2025 Feb 19.

Could Urinary Copper/Zinc Ratio Be a Newer Tool to Replace 24-Hour Urinary Copper Excretion for Diagnosing Wilson Disease in Children?

Pediatr Gastroenterol Hepatol Nutr. 2024 Jan;27(1):53-61. doi: 10.5223/pghn.2024.27.1.53. Epub 2024 Jan 9.

Histological features of liver disease development in the Atp7b mouse: a model of Wilson's disease.

J Clin Pathol. 2024 Dec 18;78(1):51-56. doi: 10.1136/jcp-2023-209190.

New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease.

Eur J Case Rep Intern Med. 2022 Dec 1;9(12):003655. doi: 10.12890/2022_003655. eCollection 2022.

Retinal Degeneration in Patients with Wilson's Disease: An OCT Study in Asian Indian Population.

Ann Indian Acad Neurol. 2022 Sep-Oct;25(5):852-857. doi: 10.4103/aian.aian_865_21. Epub 2022 Jul 14.

Hemorrhagic colitis induced by trientine in a 51-year-old patient with Wilson's disease waiting for liver transplantation: A case report.

World J Hepatol. 2022 Aug 27;14(8):1687-1691. doi: 10.4254/wjh.v14.i8.1687.

Acute liver failure with hemolytic anemia in children with Wilson's disease: Genotype-phenotype correlations?

World J Hepatol. 2021 Oct 27;13(10):1428-1438. doi: 10.4254/wjh.v13.i10.1428.

National trends and outcomes of genetically inherited non-alcoholic chronic liver disease in the USA: estimates from the National Inpatient Sample (NIS) database.

Gastroenterol Rep (Oxf). 2021 Jan 15;9(1):38-48. doi: 10.1093/gastro/goaa091. eCollection 2021 Jan.

System Pharmacology-Based Strategy to Decode the Synergistic Mechanism of GanDouLing for Wilson's Disease.

Evid Based Complement Alternat Med. 2021 Jan 29;2021:1248920. doi: 10.1155/2021/1248920. eCollection 2021.

The macrophage activation marker soluble CD163 is elevated and associated with liver disease phenotype in patients with Wilson's disease.

Orphanet J Rare Dis. 2020 Jul 2;15(1):173. doi: 10.1186/s13023-020-01452-2.

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

The Wilson's disease gene and phenotypic diversity.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

The Wilson's disease gene and phenotypic diversity.

作者信息

机构信息

出版信息

相似文献

引用本文的文献