Guo L - Search Results

1

Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center.

Song YZ, Deng M, Chen FP, Wen F, Guo L, Cao SL, Gong J, Xu H, Jiang GY, Zhong L, Kobayashi K, Saheki T, Wang ZN. Song YZ, et al. Among authors: guo l. Int J Mol Med. 2011 Jul;28(1):33-40. doi: 10.3892/ijmm.2011.653. Epub 2011 Mar 21. Int J Mol Med. 2011. PMID: 21424115

2

[Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype].

Song YZ, Guo L, Yang YL, Han LS, Kobayashi K, Saheki T. Song YZ, et al. Among authors: guo l. Zhongguo Dang Dai Er Ke Za Zhi. 2009 May;11(5):328-32. Zhongguo Dang Dai Er Ke Za Zhi. 2009. PMID: 19470249 Chinese.

3

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.

Song YZ, Zhang ZH, Lin WX, Zhao XJ, Deng M, Ma YL, Guo L, Chen FP, Long XL, He XL, Sunada Y, Soneda S, Nakatomi A, Dateki S, Ngu LH, Kobayashi K, Saheki T. Song YZ, et al. Among authors: guo l. PLoS One. 2013 Sep 19;8(9):e74544. doi: 10.1371/journal.pone.0074544. eCollection 2013. PLoS One. 2013. PMID: 24069319 Free PMC article.

4

[Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].

Deng M, Lin WX, Guo L, Zhang ZH, Song YZ. Deng M, et al. Among authors: guo l. Zhongguo Dang Dai Er Ke Za Zhi. 2016 Jun;18(6):545-50. doi: 10.7499/j.issn.1008-8830.2016.06.015. Zhongguo Dang Dai Er Ke Za Zhi. 2016. PMID: 27324545 Free PMC article. Chinese.

5

[Clinical feature and ATP8B1 mutation analysis of a patient with progressive familial intrahepatic cholestasis type I].

Cheng Y, Guo L, Song YZ. Cheng Y, et al. Among authors: guo l. Zhongguo Dang Dai Er Ke Za Zhi. 2016 Aug;18(8):751-6. doi: 10.7499/j.issn.1008-8830.2016.08.016. Zhongguo Dang Dai Er Ke Za Zhi. 2016. PMID: 27530795 Free PMC article. Chinese.

6

Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency.

Deng M, Mao M, Guo L, Chen FP, Wen WR, Song YZ. Deng M, et al. Among authors: guo l. Exp Ther Med. 2016 Nov;12(5):3294-3300. doi: 10.3892/etm.2016.3752. Epub 2016 Sep 27. Exp Ther Med. 2016. PMID: 27882152 Free PMC article.

7

[Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene].

Cheng Y, Guo L, Deng M, Song YZ. Cheng Y, et al. Among authors: guo l. Zhongguo Dang Dai Er Ke Za Zhi. 2017 Jul;19(7):734-740. doi: 10.7499/j.issn.1008-8830.2017.07.002. Zhongguo Dang Dai Er Ke Za Zhi. 2017. PMID: 28697823 Free PMC article. Chinese.

8

[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1].

Lin WX, Zheng QQ, Guo L, Cheng Y, Song YZ. Lin WX, et al. Among authors: guo l. Zhongguo Dang Dai Er Ke Za Zhi. 2017 Aug;19(8):913-920. doi: 10.7499/j.issn.1008-8830.2017.08.013. Zhongguo Dang Dai Er Ke Za Zhi. 2017. PMID: 28774368 Free PMC article. Chinese.

9

[Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome].

Huang DG, Liu JJ, Guo L, Song YZ. Huang DG, et al. Among authors: guo l. Zhongguo Dang Dai Er Ke Za Zhi. 2017 Oct;19(10):1077-1082. doi: 10.7499/j.issn.1008-8830.2017.10.009. Zhongguo Dang Dai Er Ke Za Zhi. 2017. PMID: 29046204 Free PMC article. Chinese.

10

Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele.

Zhang ZH, Lin WX, Zheng QQ, Guo L, Song YZ. Zhang ZH, et al. Among authors: guo l. Oncotarget. 2017 Aug 3;8(50):87182-87193. doi: 10.18632/oncotarget.19901. eCollection 2017 Oct 20. Oncotarget. 2017. PMID: 29152073 Free PMC article.

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