库尔班江·阿布都西库尔

社会任职

儿童消化、肝病及营养（JPGN）中文版青年编委。
上海市医学会感染病学组遗传性肝病分组秘书
上海市医学会儿科学分会、遗传病学分会及肝病分会会员

获奖荣誉

遗传性胆汁淤积症临床及基因变异特征研究荣获2018年华夏医学科技奖三等奖。
2017上海市科技进步三等奖

科研成果

以第一作者或通讯作者身份发表的文章（SCI文章15篇，中文文章11篇）：
1. Li ZD, Abuduxikuer K (共同第一作者), Wang L, Hao CZ, Zhang J, Wang MX, Li LT, Qiu YL, Xie XB, Lu Y, Wang JS. Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients. Liver Int. 2022 May 14.
2. Fang Y, Abuduxikuer K (共同第一作者), Wang Y-Z, Li S-M, Chen L and Wang J-S (2022) TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy. Front. Genet. 13:833495.
3. Abuduxikuer K（第一作者，共同通讯作者）, Wang JS. Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features. Front. Genet., 27 May 2021
4. Fang WY, Abuduxikuer K(共同第一作者), Shi P, Qiu YL, Zhao J, Li YC, Zhang XY, Wang NL, Xie XB, Lu Y, Knisely AS, Wang JS. Pediatric Wilson disease presenting as acute liver failure: Prognostic indices. World J Clin Cases. 2021 May 16;9(14):3273-3286.
5. Zhang Y, Lin CM, Zheng XL, Abuduxikuer K（通讯作者）. A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features [published online ahead of print, 2020 Sep 14]. Mol Genet Genomic Med. 2020;e1492.
6. Lu SQ, Feng JY, Liu J, Xie XB, Lu Y, Abuduxikuer K（通讯作者）. Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review [published online ahead of print, 2020 Sep 7]. J Pediatr Endocrinol Metab. 2020;/j/jpem.
7. Li ZD, Abuduxikuer K (共同第一作者), Zhang J, et al. NBAS disease: 14 new patients, a recurrent mutation, genotype-phenotype correlation among 24 Chinese patients [published online ahead of print, 2020 Aug 18]. Hepatol Res. 2020;10.1111/hepr.13559.
8. Abuduxikuer K, Zou L, Wang L, Chen L, Wang JS. Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty. J Hum Genet. 2020;65(4):387‐396.
9. Qiu YL, Liu T, Abuduxikuer K (共同第一作者), Hao CZ, Gong JY, Zhang MH, Li LT, Yan YY, Li JQ, Wang JS. Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome. Hum Mutat. 2019;40(12):2247‐2257.
10. Abuduxikuer K, Li ZD, Li YC, Zhao J, Xie XB, Wang JS. Novel melanocortin 2 receptor variant in in a Chinese infant with familial glucocorticoid deficiency type 1 , case report and review of literature. Front Endocrinol (Lausanne). 2019;10:359.
11. Abuduxikuer K, Chen R, Wang ZL, Wang JS. Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications. BMC Pediatr. 2019 Jan 14;19(1):18.
12. Abuduxikuer K, Fang LJ, Li LT, Gong JY, Wang JS. UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation. Medicine (Baltimore). 2018 Dec;97(49):e13576.
13. Abuduxikuer K, Feng JY, Lu Y, Xie XB, Chen L, Wang JS. Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature. World J Gastroenterol 2018; 24(36): 4208-4216
14. Abuduxikuer K, Li LT, Qiu YL, Wang NL, Wang JS. Wilson disease with hepatic presentation in an eight-month-old boy. World J Gastroenterol. 2015 Aug 7;21(29):8981-4.?
15. Abuduxikuer K, Wang JS. Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study. PLoS One. 2014 Jan 24;9(1):e86168.
16. 李忠蝶,黎佳琪,库尔班江·阿布都西库尔（通讯作者）.儿童反复发热相关急性肝衰竭的诊治[J].临床肝胆病杂志,2022,38(02):264-267.
17. 库尔班江·阿布都西库尔,王建设. 关注儿童肝脏疾病[J]. 中华肝脏病杂志,2021,29(1):5-8.
18. 库尔班江·阿布都西库尔，王建设. 先天性糖基化障碍与肝脏疾 病[J]. 临床肝胆病杂志， 2019， 35(8): 1684 -1689
19. 库尔班江·阿布都西库尔，王建设. 遗传性肝病之“百变面孔” [J]. 临床肝胆病杂志， 2019， 35(8): 1657 -1662
20. 库尔班江·阿布都西库尔,王建设.遗传代谢性疾病与肝移植[J].中华肝脏病杂志,2019,27(3):166-171.
21. 库尔班江·阿布都西库尔，丘倚灵，王建设. 重视遗传性肝病诊治. 中华肝脏病杂志. 2018, 26(12); 881-883。
22. 库尔班江·阿布都西库尔,王建设.儿童肝移植:获得肝源是一场非对称的战争[J].肝脏,2018,23(01):12-13.
23. 张琰,林彩梅,周峻荔,库尔班江·阿布都西库尔（通讯作者）.转醛醇酶缺陷病[J].肝脏,2017,22(10):942-945+974.
24. 库尔班江·阿布都西库尔,王建设.儿童非酒精性脂肪性肝病临床进展[J].肝脏,2016,21(11):975-977.
25. 古丽鲜·阿布都热依木,吐尔逊娜依·沙都,阿依江·别克道来提,库尔班江·阿布都西库尔（通讯作者）.Landau-Kleffner综合征二例报告及文献复习[J].临床误诊误治,2013,26(12):28-31.
26. 库尔班江·阿布都西库尔,王建设.有机溶质转运体α-β在胆汁酸代谢及胆汁淤积症中的作用[J].肝脏,2012,17(08):576-581.

参与发表的文章（SCI文章11篇，中文文章5篇）：
1. Wang NL, Lin J, Chen L, Lu Y, Xie XB, Abuduxikuer K, Wang JS. Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency. BMC Gastroenterol. 2022 May 9;22(1):227.
2. Wang NL, Chen L, Lu Y, Xie XB, Lin J, Abuduxikuer K, Wang JS. The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis. Front Genet. 2022 Mar 18;13:867413.
3. Li F, Zhang Y, Shi P, Cao L, Su L, Fu P, Abuduxikuer K, Wang L, Wang Y, Lu R, Tan W, Shen J. Mycoplasma pneumoniae and Adenovirus Coinfection Cause Pediatric Severe Community-Acquired Pneumonia. Microbiol Spectr. 2022 Mar 21:e0002622.
4. Luan W, Hao CZ, Li JQ, Wei Q, Gong JY, Qiu YL, Lu Y, Shen CH, Xia Q, Xie XB, Zhang MH, Abuduxikuer K, Li ZD, Wang L, Xing QH, Knisely AS, Wang JS. Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis. J Med Genet. 2020 Jul 31:jmedgenet-2019-106706. doi: 10.1136/jmedgenet-2019-106706.
5. Fang LJ, Abuduxikuer K, Yan XM, Zhu H, Huang KY. An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia [published online ahead of print, 2020 May 21]. J Pediatr Endocrinol Metab. 2020;
6. Wang NL, Lu Y, Gong JY, Xie XB, Lin J, Abuduxikuer K, Zhang MH, Wang JS. Molecular findings in children with inherited intrahepatic cholestasis. Pediatr Res. 2019 Aug 26.
7. Li JQ, Xie XB, Feng JY, Chen L, Abuduxikuer K, Lu Y, Li YC, Wang JS. A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report. BMC Gastroenterol. 2018 Jun 25;18(1):96.
8. Fang W, Song P, Xie X, Wang J, Lu Y, Li G, Abuduxikuer K. A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene. Oncotarget. 2017 Sep 15;8(48):84309-84319.
9. Wang NL, Li LT, Wu BB, Gong JY, Abuduxikuer K, Li G, Wang JS. The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency. PLoS One. 2016 Apr 6;11(4):e0153114.
10. Li L, Dong J, Wang X, Guo H, Wang H, Zhao J, Qiu Y, Abuduxikuer K, Wang J. JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome. PLoS One. 2015 Jun 15;10(6):e0130355.
11. Chen R, Wang XH, Fu HY, Zhang SR, Abudouxikuer K, Saheki T, Wang JS. Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis. World J Gastroenterol. 2013 Jul 28;19(28):4545-51.
12. 陆美勤,龚敬宇,李春燕, 库尔班江·阿布都西库尔,等.药物相关性胆管消失综合征一例[J].中华儿科杂志,2020,58(5):430-431.
13. 刘攀,陆怡,谢新宝, 库尔班江·阿布都西库尔,等.经典型半乳糖血症4例[J].中华肝脏病杂志,2020,28(1):77-79.
14. 杨烨,库尔班江·阿布都西库尔,栾维莎, 等.SERAC1基因突变导致的以肝脏表型就诊的MEGDHEL综合征临床及实验室特征[J].中华肝脏病杂志,2018,26(12):958-960.
15. 王建设,库尔班江·阿布都西库尔.加强培训,迎接儿童肝病新挑战[J].临床肝胆病杂志,2015,31(8):1181-1184.
16. 王建设,库尔班江·阿布都西库尔,李丽婷.婴儿胆汁淤积性肝病基因诊断[J].中国实用儿科杂志,2013,28(04):254-257.

撰写的书籍或章节：
1. Jian-She Wang, Kuerbanjiang Abuduxikuer. Chapter 33 - Wilson Disease in China. Editor(s): Nanda Kerkar, Eve A. Roberts, Clinical and Translational Perspectives on WILSON DISEASE, Academic Press, 2019, Pages 345-353, ISBN 9780128105320.

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