|本期目录/Table of Contents|

[1]蒋海燕,赵悦,郑荣秀.姐弟同患肝豆状核变性病例报道[J].天津医科大学学报,2022,28(04):442-444.
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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
28卷
期数:
2022年04期
页码:
442-444
栏目:
病例报告
出版日期:
2022-07-20

文章信息/Info

Title:
-
文章编号:
1006-8147(2022)04-0442-03
作者:
蒋海燕赵悦郑荣秀
(天津医科大学总医院儿科,天津 300052)
Author(s):
-
关键词:
肝豆状核变性儿童ATP7B基因突变
Keywords:
-
分类号:
R725.8
DOI:
-
文献标志码:
B
摘要:
-
Abstract:
-

参考文献/References:

[1] MULLIGAN C,BRONSTEIN J M. Wilson disease: an overview and approach to management[J]. Neurol Clin,2020,38(2):417-432.
[2] SANDAHL T D,LAURSEN T L,MUNK D E,et al. The prevalence of Wilson′s disease:an update[J]. Hepatology,2020,71(2):722-732.
[3] PETRUKHIN K,FISCHER S G,PIRASTU M,et al. Mapping,cloning and genetic characterization of the region containing the Wilson diseasegene[J]. Nat Genet,1993,5(4):338-343.
[4] BULL P C,THOMAS G R,ROMMENS J M,et al. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkesgene[J]. Nat Genet,1993,5(4):327-337.
[5] 黄清,王刚. 106例肝豆状核变性的临床表型和生存期研究[J]. 内科理论与实践,2021,16(5):319-324.
[6] 中华医学会神经病学分会神经遗传学组. 中国肝豆状核变性诊治指南2021[J]. 中华神经科杂志,2021,54(4):310-319.
[7] 吴晓明,何强,陈芳,等. 儿童肝豆状核变性延误诊断1例[J]. 中西医结合肝病杂志,2021,31(6):565-568.
[8] 姚碧莲,张欣欣,韩悦. 肝豆状核变性的基因诊断研究进展[J]. 内科理论与实践,2021,16(5):354-358.
[9] 高一明,张亚平,王培培. 姐弟以不同首发症状同患肝豆状核变性的病例报道[J]. 中国优生与遗传杂志,2021,29(4):523-524.
[10] Li M M,MA J,WANG W L,et al. Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease[J]. BMC Gastroenterol,2021,21(1):339.
[11] SANDAHL T D,GORMSEN L C,KJAERGAARD K,et al. The pathophysiology of Wilson′s disease visualised:a human64Cu PET study[J]. Hepatology,2022,75(6):1461-1470.
[12] BIER?覵A J B,JA■CZYK W ,KONOPKA E,et al. Fatty acid-binding protein 1 as a potential new serological marker of liver status in children with Wilson disease[J]. J Pediatr Gastroenterol Nutr,2021,73(4):455-462.
[13] GRANDIS D J,NAH G,WHITMAN I R,et al. Wilson′s disease and cardiac myopathy[J]. Am J Cardiol,2017,120(11):2056-2060.
[14] SALATZKI J,MOHR I,HEINS J,et al. The impact of Wilson disease on myocardial tissue and function:a cardiovascular magnetic resonance study[J]. J Cardiovasc Magn Reson,2021,23(1):84.
[15] BRUHA R,MARECEK Z,POSPISILOVA L,et al. Long-term follow-up of Wilson disease:natural history,treatment,mutations analysis and phenotypic correlation[J]. Liver Int,2011,31(1):83-91.
[16] ARNON R,ANNUNZIATO R,SCHILSKY M,et al. Liver transplantation for children with Wilson disease:comparison of outcomes between children and adults[J]. Clin Transplant,2011,25(1):E52-E60.

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备注/Memo

备注/Memo:
作者简介:蒋海燕(1995-),女,硕士在读,研究方向:儿科学;通信作者:郑荣秀,E-mail:rzheng@tmu.edu.cn。
更新日期/Last Update: 2022-07-20