Li L - Search Results

1

Genotype correlates with the natural history of severe bile salt export pump deficiency.

van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly DA, Nebbia G, Arnell H, Björn Fischler, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Calvo PL, Grabhorn E, Sturm E, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz Ö, Onal Z, Bunt TMG, Hansen BE, Verkade HJ; NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium. van Wessel DBE, et al. Among authors: li l. J Hepatol. 2020 Jul;73(1):84-93. doi: 10.1016/j.jhep.2020.02.007. Epub 2020 Feb 20. J Hepatol. 2020. PMID: 32087350

2

Primary ∆4-3-oxosteroid 5β-reductase deficiency: two cases in China.

Zhao J, Fang LJ, Setchell KD, Chen R, Li LT, Wang JS. Zhao J, et al. World J Gastroenterol. 2012 Dec 21;18(47):7113-7. doi: 10.3748/wjg.v18.i47.7113. World J Gastroenterol. 2012. PMID: 23323017 Free PMC article.

3

[Mutation analysis of FAH gene in patients with tyrosinemia type 1].

Dou LM, Fang LJ, Wang XH, Lu W, Chen R, Li LT, Zhao J, Wang JS. Dou LM, et al. Zhonghua Er Ke Za Zhi. 2013 Apr;51(4):302-7. Zhonghua Er Ke Za Zhi. 2013. PMID: 23927806 Chinese.

4

Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.

Li LT, Zhao J, Chen R, Wang JS. Li LT, et al. World J Gastroenterol. 2014 Jan 7;20(1):326-9. doi: 10.3748/wjg.v20.i1.326. World J Gastroenterol. 2014. PMID: 24415890 Free PMC article.

5

ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

Wang JS, Zhao J, Li LT. Wang JS, et al. World J Gastroenterol. 2014 Apr 28;20(16):4830-4. doi: 10.3748/wjg.v20.i16.4830. World J Gastroenterol. 2014. PMID: 24782640 Free PMC article.

6

Wilson disease with hepatic presentation in an eight-month-old boy.

Abuduxikuer K, Li LT, Qiu YL, Wang NL, Wang JS. Abuduxikuer K, et al. World J Gastroenterol. 2015 Aug 7;21(29):8981-4. doi: 10.3748/wjg.v21.i29.8981. World J Gastroenterol. 2015. PMID: 26269689 Free PMC article.

7

Hypothyroidism Associated with ATP8B1 Deficiency.

Li L, Deheragoda M, Lu Y, Gong J, Wang J. Li L, et al. J Pediatr. 2015 Dec;167(6):1334-9.e1. doi: 10.1016/j.jpeds.2015.08.037. Epub 2015 Sep 15. J Pediatr. 2015. PMID: 26382629

8

The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.

Wang NL, Li LT, Wu BB, Gong JY, Abuduxikuer K, Li G, Wang JS. Wang NL, et al. PLoS One. 2016 Apr 6;11(4):e0153114. doi: 10.1371/journal.pone.0153114. eCollection 2016. PLoS One. 2016. PMID: 27050426 Free PMC article.

9

Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.

Qiu YL, Gong JY, Feng JY, Wang RX, Han J, Liu T, Lu Y, Li LT, Zhang MH, Sheps JA, Wang NL, Yan YY, Li JQ, Chen L, Borchers CH, Sipos B, Knisely AS, Ling V, Xing QH, Wang JS. Qiu YL, et al. Among authors: li jq, li lt. Hepatology. 2017 May;65(5):1655-1669. doi: 10.1002/hep.29020. Epub 2017 Mar 23. Hepatology. 2017. PMID: 28027573 Free PMC article.

10

Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations.

Liu T, Wang RX, Han J, Hao CZ, Qiu YL, Yan YY, Li LT, Wang NL, Gong JY, Lu Y, Zhang MH, Xie XB, Yang JC, You YJ, Li JQ, Knisely AS, Borchers CH, Ling V, Wang JS. Liu T, et al. Liver Int. 2018 Sep;38(9):1676-1685. doi: 10.1111/liv.13714. Epub 2018 Mar 12. Liver Int. 2018. PMID: 29412511

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