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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

1
The Wilson's disease gene and phenotypic diversity.威尔逊氏病基因与表型多样性。
J Hepatol. 2001 Jan;34(1):165-71. doi: 10.1016/s0168-8278(00)00028-3.
2
Muddying the water: Wilson's disease challenges will not soon disappear.搅浑水：威尔逊氏病带来的挑战不会很快消失。
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Overcoming obstacles to the diagnosis of Wilson's disease.克服威尔逊氏病诊断中的障碍。
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Severe hepatic Wilson's disease in preschool-aged children.
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Biological functions of ceruloplasmin and their deficiency caused by mutation in genes regulating copper and iron metabolism.铜蓝蛋白的生物学功能及其因调控铜和铁代谢的基因突变而导致的缺乏。
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Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.日本威尔逊病患者ATP7B基因的突变分析及基因型-表型相关性研究
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ATP7b gene and Wilson's disease.ATP7b基因与威尔逊氏病。
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[Expression characters of ATP7B mRNA in liver tissue of patients with Wilson's disease].
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Clinical Characteristics, Treatment Effects and Risk Factors of Liver Cirrhosis in Patients with Wilson's Disease Hepatic Type.肝豆状核变性肝型患者肝硬化的临床特征、治疗效果及危险因素
J Clin Transl Hepatol. 2025 Apr 28;13(4):306-314. doi: 10.14218/JCTH.2024.00453. Epub 2025 Feb 19.
2
Could Urinary Copper/Zinc Ratio Be a Newer Tool to Replace 24-Hour Urinary Copper Excretion for Diagnosing Wilson Disease in Children?尿铜/锌比值能否成为一种更新的工具，用以取代24小时尿铜排泄量来诊断儿童威尔逊病？
Pediatr Gastroenterol Hepatol Nutr. 2024 Jan;27(1):53-61. doi: 10.5223/pghn.2024.27.1.53. Epub 2024 Jan 9.
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Histological features of liver disease development in the Atp7b mouse: a model of Wilson's disease.
Atp7b小鼠肝脏疾病发展的组织学特征：威尔逊病模型
J Clin Pathol. 2024 Dec 18;78(1):51-56. doi: 10.1136/jcp-2023-209190.
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New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease.一名患有威尔逊氏病的巴西患者中发现新的ATP7B基因突变。
Eur J Case Rep Intern Med. 2022 Dec 1;9(12):003655. doi: 10.12890/2022_003655. eCollection 2022.
5
Retinal Degeneration in Patients with Wilson's Disease: An OCT Study in Asian Indian Population.威尔逊病患者的视网膜变性：亚洲印度人群的光学相干断层扫描研究
Ann Indian Acad Neurol. 2022 Sep-Oct;25(5):852-857. doi: 10.4103/aian.aian_865_21. Epub 2022 Jul 14.
6
Hemorrhagic colitis induced by trientine in a 51-year-old patient with Wilson's disease waiting for liver transplantation: A case report.一名等待肝移植的51岁威尔逊病患者因曲恩汀诱发出血性结肠炎：病例报告
World J Hepatol. 2022 Aug 27;14(8):1687-1691. doi: 10.4254/wjh.v14.i8.1687.
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World J Hepatol. 2021 Oct 27;13(10):1428-1438. doi: 10.4254/wjh.v13.i10.1428.
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Gastroenterol Rep (Oxf). 2021 Jan 15;9(1):38-48. doi: 10.1093/gastro/goaa091. eCollection 2021 Jan.
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Evid Based Complement Alternat Med. 2021 Jan 29;2021:1248920. doi: 10.1155/2021/1248920. eCollection 2021.
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The macrophage activation marker soluble CD163 is elevated and associated with liver disease phenotype in patients with Wilson's disease.巨噬细胞活化标志物可溶性 CD163 升高，并与威尔逊病患者的肝病表型相关。
Orphanet J Rare Dis. 2020 Jul 2;15(1):173. doi: 10.1186/s13023-020-01452-2.