Li Guo

发表

[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].

Ying Cheng, Li Guo, Mei Deng, 2017, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

[Clinical and genetic study of an infant with Alagille syndrome: identification of a novel chromosomal interstitial deletion including JAG1 gene].

Jia-Jia Liu, Ying Cheng, Li Guo, 2017, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population.

H. Shang, Z. Wang, P. Chan, 2020, Brain : a journal of neurology.

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

T. Saheki, Keiko Kobayashi, Jian Gong, 2011, International journal of molecular medicine.

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

T. Saheki, Keiko Kobayashi, Yanling Yang, 2009, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

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

Li Guo, Yuan-zong Song, Zhanpeng Zhang, 2017, Oncotarget.

[Clinical features and LAMA2 mutations of patients with congenital muscular dystrophy type 1A: a case report and literature review].

Li Guo, Yuan-zong Song, Wen-Min Tang, 2020, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

[Identification of a novel JAG1 mutation in a family affected by Alagille syndrome].

Qing Zhou, Ying Cheng, Li Guo, 2016, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

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

Ying Cheng, Li Guo, Yuan-zong Song, 2017, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Etiological Analysis of Neurodevelopmental Disabilities: Single-Center Eight-Year Clinical Experience in South China

Keiko Kobayashi, Yueqiu Tan, Li Guo, 2010, Journal of biomedicine & biotechnology.

Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.

Lee-Jun C Wong, Chien-Chih Wu, Han-Sun Chiang, 2005, Human reproduction.

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia

Ying Cheng, Li Guo, Mei Deng, 2017, Oncotarget.

[DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review].

Li Guo, Mei Deng, Yuan-zong Song, 2020, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

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

Li Guo, Mei Deng, Yuan-zong Song, 2016, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

Y. Sunada, T. Saheki, Keiko Kobayashi, 2013, PloS one.

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

Ying Cheng, Li Guo, Yuan-zong Song, 2016, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

[Clinical and genetic analysis of a family affected by progressive familial intraphepatic cholestasis type 3].

Li Guo, Mei Deng, Yuan-zong Song, 2018, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

[Clinical features and MYO5B mutations of a family affected by microvillus inclusion disease].

Ying Cheng, Li Guo, Yuan-zong Song, 2017, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

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

Li Guo, Mei Deng, Yuan-zong Song, 2016, Experimental and therapeutic medicine.

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

Jia-Jia Liu, Li Guo, Yuan-zong Song, 2017, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Clinical and molecular characterization of four patients with NTCP deficiency from two unrelated families harboring the novel SLC10A1 variant c.595A>C (p.Ser199Arg)

Li Guo, Mei Deng, Yuan-zong Song, 2019, Molecular medicine reports.

Clinical characterization of NTCP deficiency in paediatric patients : A case‐control study based on SLC10A1 genotyping analysis

R. Liu, W. Ouyang, Shuang-Jie Li, 2021, Liver international : official journal of the International Association for the Study of the Liver.

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

T. Saheki, Keiko Kobayashi, Jian Gong, 2011, International journal of molecular medicine.