|
[1] KUERBANJIANG ABDXKE, QIU YL, WANG JS. Focus on diagnosis and treatment of genetic liver disorders[J]. Chin J Hepatol, 2018, 26 (12) :881-884. (in Chinese) 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[J].中华肝脏病杂志, 2018, 26 (12) :881-884.
|
|
[2] ZHAO J, FANG LJ, SETCHELL KD, et al. PrimaryΔ4-3-oxosteroid 5β-reductase deficiency:Two cases in China[J].World J Gastroenterol, 2012, 18 (47) :7113-7117.
|
|
[3] ZHANG MH, SETCHELL KD, ZHAO J, et al.Δ4-3-oxosteroid-5β-reductase deficiency:Responses to oral bile acid therapy and long-term outcomes[J]. World J Gastroenterol, 2019, 25 (7) :859-869.
|
|
[4] GONG JY, SETCHELL KDR, ZHAO J, et al. Severe neonatal cholestasis in cerebrotendinous xanthomatosis:Genetics, immunostaining, mass spectrometry[J]. J Pediatr Gastroenterol Nutr, 2017, 65 (5) :561-568.
|
|
[5] LIU LY, WANG XH, WANG ZL, et al. Characterization of ATP8B1gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT[J]. J Pediatr Gastroenterol Nutr, 2010, 50 (2) :179-183.
|
|
[6] LI L, DEHERAGODA M, LU Y, et al. Hypothyroidism associated with ATP8B1 deficiency[J]. J Pediatr, 2015, 167 (6) :1334-1339. e1.
|
|
[7] LI LT, WANG JS. ATP8B1 deficiency[J]. Chin Hepatol, 2012, 17 (8) :581-583. (in Chinese) 李丽婷, 王建设. ATP8B1缺陷病[J].肝脏, 2012, 17 (8) :581-583.
|
|
[8] LIU LY, WANG XH, LU Y, et al. Association of variants of ABCB11 with transient neonatal cholestasis[J]. Pediatr Int, 2013, 55 (2) :138-144.
|
|
[9] LI LT, WANG JS. ATP8B1 deficiency[J]. Chin Hepatol, 2012, 17 (7) :507-509. (in Chinese) 李丽婷, 王建设. ABCB11缺陷病[J].肝脏, 2012, 17 (7) :507-509.
|
|
[10] LIU LY, WANG JS, MA LX, et al. Significance of V444A polymorphism of ABCB11 gene in neonatal cholestasis[J]. J Appl Clin Pediatr, 2013, 28 (2) :92-94. (in Chinese) 刘丽艳, 王建设, 马丽霞, 等. ABCB11基因V444A位点多态性在新生儿胆汁淤积症中的意义[J].中华实用儿科临床杂志, 2013, 28 (2) :92-94.
|
|
[11] LI LT, ZHAO J, CHEN R, et al. Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China[J]. World J Gastroenterol, 2014, 20 (1) :326-329.
|
|
[12] WANG JS, ZHAO J, LI LT. ARC syndrome with high GGT cholestasis caused by VPS33B mutations[J]. World J Gastroenterol, 2014, 20 (16) :4830-4834.
|
|
[13] FANG LJ, WANG XH, KNISELY AS, et al. Chinese children with chronic intrahepatic cholestasis and highγ-glutamyl transpeptidase:Clinical features and association with ABCB4mutations[J]. J Pediatr Gastroenterol Nutr, 2012, 55 (2) :150-156.
|
|
[14] QIU YL, WANG JS. ABCB4 gene mutations and related diseases[J]. Chin Hepatol, 2012, 17 (7) :509-511. (in Chinese) 丘倚灵, 王建设. ABCB4基因突变及相关疾病[J].肝脏, 2012, 17 (7) :509-511.
|
|
[15] CHEN R, WANG XH, FU HY, et al. Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis[J]. World J Gastroenterol, 2013, 19 (28) :4545-4551.
|
|
[16] ABUDUXIKUER K, CHEN R, WANG ZL, et al. Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications[J]. BMC Pediatr, 2019, 19 (1) :18.
|
|
[17] FU HY, WANG XH, LU Y, et al. Characteristics of the plasma amino acid spectrum of neonatal intrahepatic cholestasis caused by citrin deficiency[J]. Chin J Hepatol, 2013, 21 (12) :934-939. (in Chinese) 付海燕, 王晓红, 陆怡, 等. Citrin缺陷导致婴儿肝内胆汁淤积症的血浆氨基酸谱特点[J].中华肝脏病杂志, 2013, 21 (12) :934-939.
|
|
[18] LI L, DONG J, WANG X, et al. JAG1 mutation spectrum and origin in Chinese children with clinical features of alagille syndrome[J]. PLo S One, 2015, 10 (6) :e0130355.
|
|
[19] YOUSSEFIAN L, VAHIDNEZHAD H, SAEIDIAN AH, et al. Genetargeted next-generation sequencing identifies a novel CLDN1mutation in a consanguineous family with NISCH syndrome[J].Am J Gastroenterol, 2017, 112 (2) :396-398.
|
|
[20] LI JQ, LU Y, QIU YL, et al. Neonatal sclerosing cholangitis caused by DCDC2 variations in two siblings and literature review[J]. Chin J Pediatr, 2018, 56 (8) :623-627. (in Chinese) 黎佳琪, 陆怡, 丘倚灵, 等. DCDC2基因变异致新生儿硬化性胆管炎二例并文献复习[J].中华儿科杂志, 2018, 56 (8) :623-627.
|
|
[21] HOU HL, LI JQ, WANG JS, et al. NSD1 deficiency might be associated with infantile cholestasis:A case report[J]. Chin J Evid Based Pediatr, 2017, 12 (6) :474-475. (in Chinese) 侯红丽, 黎佳琪, 王建设, 等. NSD1缺陷可能相关婴儿胆汁淤积症1例病例报告[J].中国循证儿科杂志, 2017, 12 (6) :474-475.
|
|
[22] LI L, WANG NL, GONG JY, et al. Infantile cholestasis caused by CFTR mutation:Case report and literature review[J]. Chin J Pediatr, 2016, 54 (11) :851-855. (in Chinese) 李丽, 王能里, 龚敬宇, 等.表现为婴儿胆汁淤积的CFTR基因缺陷致囊性纤维化病一例并文献复习[J].中华儿科杂志, 2016, 54 (11) :851-855.
|
|
[23] ZHAI LJ, DU J, WANG NL, et al. Heterozygous deletion in 18q21causes infantile cholestasis and mental retardation:A case report[J]. Chin J Evid Based Pediatr, 2018, 13 (2) :134-137. (in Chinese) 翟丽娟, 杜鹃, 王能里, 等. 18q21杂合缺失致婴儿肝内胆汁淤积症伴智能发育落后1例病例报告[J].中国循证儿科杂志, 2018, 13 (2) :134-137.
|
|
[24] AAMANN L, RNTOFT N, VOGEL I, et al. Unexplained cholestasis in adults and adolescents:Diagnostic benefit of genetic examination[J]. Scand J Gastroenterol, 2018, 53 (3) :305-311.
|
|
[25] WANG J, FANG LJ, LI L, et al. A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome[J]. Chin Med J (Engl) , 2011, 124 (23) :4109-4111.
|
|
[26] ABUDUXIKUER K, FANG LJ, LI LT, et al. UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in postneonatal Chinese children:A retrospective analysis and quantitative correlation[J]. Medicine (Baltimore) , 2018, 97 (49) :e13576.
|
|
[27] CAI HB, LI LT, FANG LJ, et al. Genetic diagnosis and analysis of a family with Crigler-Najjar syndrome type II[J]. J Appl Clin Pediatr, 2014, 29 (3) :239-240. (in Chinese) 蔡华波, 李丽婷, 方玲娟, 等. Crigler-Najjar综合征Ⅱ型一家系基因诊断与分析[J].中华实用儿科临床杂志, 2014, 29 (3) :239-240.
|
|
[28] TALAGA ZJ, VAIDYA PN. Dubin johnson syndrome[M/OL].Stat Pearls:Stat Pearls Publishing, 2019.
|
|
[29] JIRSA M, KNISELY AS, SCHINKEL A, et al. Rotor Syndrome[M/OL]//ADAM MP, ARDINGER HH, PAGON RA, et al.GeneReviews. Seattle (WA) :University of Washington, Seattle:1993-2019.
|
|
[30] BAI J, ZHENG SJ, DUAN ZP. Clinical features and diagnosis of four common types of congenital hyperbilirubinemia[J]. J Clin Hepatol, 2019, 35 (8) :1680-1683. (in Chinese) 白洁, 郑素军, 段钟平. 4种常见先天性高胆红素血症的临床特征及诊断思路[J].临床肝胆病杂志, 2019, 35 (8) :1680-1683.
|
|
[31] MAO F, LIU T, HOU X, et al. Increased sulfation of bile acids in mice and human subjects with sodium taurocholate cotransporting polypeptide deficiency[J]. J Biol Chem, 2019.[Epub ahead of print]
|
|
[32] CHEN SR, CHONG YT, LI XH. Pathogenic mechanism and clinical diagnosis of hereditary abnormal copper metabolism[J]. J Clin Hepatol, 2019, 35 (8) :1667-1672. (in Chinese) 陈淑如, 崇雨田, 李新华.遗传性铜代谢异常的致病机制及临床诊断[J].临床肝胆病杂志, 2019, 35 (8) :1667-1672.
|
|
[33] HAN Y, ZHANG XX. Genetic diagnosis of hereditary hemochromatosis[J]. J Clin Hepatol, 2019, 35 (8) :1673-1679. (in Chinese) 韩悦, 张欣欣.遗传性血色病的基因诊断[J].临床肝胆病杂志, 2019, 35 (8) :1673-1679.
|
|
[34] ABUDUXIKUER K, LI LT, QIU YL, et al. Wilson disease with hepatic presentation in an eight-month-old boy[J]. World J Gastroenterol, 2015, 21 (29) :8981-8984.
|
|
[35] ABUDUXIKUER K, CHEN R, WANG ZL, et al. Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications[J]. BMC Pediatr, 2019, 19 (1) :18.
|
|
[36] HEGARTY R, HADZIC N, GISSEN P, et al. Inherited metabolic disorders presenting as acute liver failure in newborns and young children:King’s College Hospital experience[J]. Eur J Pediatr, 2015, 174 (10) :1387-1392.
|
|
[37] LI JQ, QIU YL, GONG JY, et al. Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children:A retrospective study[J]. BMC Gastroenterol, 2017, 17 (1) :77.
|
|
[38] LI JQ, GONG JY, KNISELY AS, et al. Recurrent acute liver failure associated with novel SCYL1 mutation:A case report[J]. World J Clin Cases, 2019, 7 (4) :494-499.
|
|
[39] COUSIN MA, CONBOY E, WANG JS, et al. RINT1 bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities[J]. Am J Hum Genet, 2019, 105 (1) :108-121.
|
|
[40] LI CX, GONG JY, ZHANG MH, et al. Effect of pharmacotherapy on decompensated liver function in children with hepatolenticular degeneration[J]. J Clin Hepatol, 2017, 33 (8) :1543-1547. (in Chinese) 李春霞, 龚敬宇, 张梅虹, 等.药物治疗儿童肝豆状核变性肝功能失代偿的效果观察[J].临床肝胆病杂志, 2017, 33 (8) :1543-1547.
|
|
[41] LIU J, ZHANG MH, GONG JY, et al. Report of 7 cases of glycogen storage disease type VI and type IXa[J]. Chin J Evid Based Pediatr, 2017, 12 (4) :284-288. (in Chinese) 刘杰, 张梅红, 龚敬宇, 等.糖原累积病VI型和Xa型7例病例报告并文献复习[J].中国循证儿科杂志, 2017, 12 (4) :284-288.
|
|
[42] ZHANG MH, WANG HJ, ZHANG P, et al. Glycogenosis typeⅨcaused by a novel mutation of phosphorylase kinase a subunit:A family analysis[J]. Chin J Hepatol, 2017, 25 (4) :304-306. (in Chinese) 张梅虹, 王慧君, 张萍, 等.磷酸化酶激酶α亚单位新突变所致的糖原累积症Ⅸ型及核心家系研究[J].中华肝脏病杂志, 2017, 25 (4) :304-306.
|
|
[43] LI JQ, XIE XB, FENG JY, et al. A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia:A case report[J]. BMC Gastroenterol, 2018, 18 (1) :96.
|
|
[44] REITER JF, LEROUX MR. Genes and molecular pathways underpinning ciliopathies[J]. Nat Rev Mol Cell Biol, 2017, 18 (9) :533-547.
|
|
[45] YAN YY, GONG JY, SHI YY, et al. Portal hypertension caused by PKHD1 mutations in children:4 cases report[J]. Chin J Evid Based Pediatr, 2016, 11 (6) :455-459. (in Chinese) 颜艳燕, 龚敬宇, 施莺燕, 等. PKHD1突变致儿童门脉高压4例病例报告[J].中国循证儿科杂志, 2016, 11 (6) :455-459.
|
|
[46] ABUDUXIKUER K, FENG JY, LU Y, et al. Novel methionyltRNA synthetase gene variants/phenotypes in interstitial lung and liver disease:A case report and review of literature[J].World J Gastroenterol, 2018, 24 (36) :4208-4216.
|
|
[47] HOOPER AJ, ADAMS LA, BURNETT JR. Genetic determinants of hepatic steatosis in man[J]. J Lipid Res, 2011, 52 (4) :593-617.
|
|
[48] TAN YW, JI HL, LU ZH, et al. Ductopenia and cirrhosis in a32-year-old woman with progressive familial intrahepatic cholestasis type 3:A case report and review of the literature[J]. World J Gastroenterol, 2018, 24 (41) :4716-4720.
|
|
[49] ABUDUXIKUER K, WANG JS. Zinc mono-therapy in presymptomatic Chinese children with Wilson disease:A single center, retrospective study[J]. PLo S One, 2014, 9 (1) :e86168.
|
|
[50] LU Y, WANG JS. Diagnosis of Wilson’s disease in children[J]. J Clin Hepatol, 2012, 28 (12) :907-910. (in Chinese) 陆怡, 王建设.儿童肝豆状核变性的诊断[J].临床肝胆病杂志, 2012, 28 (12) :907-910.
|
|
[51] LIU LY, WANG JS. Liver diseases due to mitochondrial defect[J]. Chin Hepatol, 2008, 13 (1) :68-74. (in Chinese) 刘丽艳, 王建设.线粒体缺陷所致肝脏疾病[J].肝脏, 2008, 13 (1) :68-74.
|
|
[52] ZHANG Y, LIN CM, ZHOU JL, et al. Transaldolase deficiency[J]. Chin Hepatol, 2017, 22 (10) :942-945, 974. (in Chinese) 张琰, 林彩梅, 周峻荔, 等.转醛醇酶缺陷病[J].肝脏, 2017, 22 (10) :942-945, 974.
|
|
[53] HAZIN R, ABU-RAJAB TAMIMI TI, ABUZETUN JY, et al.Recognizing and treating cutaneous signs of liver disease[J].Cleve Clin J Med, 2009, 76 (10) :599-606.
|
|
[54] ABUDUXIKUER KEBJ, WANG JS. Congenital disorders of glycosylation and liver diseases[J]. J Clin Hepatol, 2019, 35 (8) :1684-1689. (in Chinese) 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.
|
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