Mei Deng

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.

Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases

Rui Liu, Mei Deng, Yuan-zong Song, 2019, Front. Genet..

[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.

Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: Identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance

Xiang-Ran Cai, Mei Deng, Yuan-zong Song, 2014, International journal of molecular medicine.

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.

Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: a clinical, genetic and transcriptional analysis.

Xiang-Ran Cai, Mei Deng, Yuan-zong Song, 2012, Gene.

The alterations in molecular markers and signaling pathways in chronic thromboembolic pulmonary hypertension, a study with transcriptome sequencing and bioinformatic analysis

Ming Liu, Dingyi Wang, X. Tao, 2022, Frontiers in Cardiovascular Medicine.

Intrahepatic Cholestasis of Pregnancy Caused by NTCP Deficiency

Mei Deng, Yuan-zong Song, Jian-wu Qiu, 2019 .

[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.

Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy.

Z. Shan, Xi-yong Yu, Mei Deng, 2009, Chinese medical journal.

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.

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.

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.

Clinical, Molecular and Functional Investigation on an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD)

Mei Deng, Yuan-zong Song, Zhanpeng Zhang, 2014, PloS one.

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.

Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency.

Mei Deng, Yuan-zong Song, Zhanpeng Zhang, 2012, Gene.

Group B Streptococcal Infection of the Choriodecidua Induces Dysfunction of the Cytokeratin Network in Amniotic Epithelium: A Pathway to Membrane Weakening

R. Beyer, C. Rubens, R. Kapur, 2014, PLoS pathogens.

Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures

W. Ouyang, Y. Tan, Mei Deng, 2022, Orphanet journal of rare diseases.

[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 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 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.

Monozygotic Twins Suffering From Sodium Taurocholate Cotransporting Polypeptide Deficiency: A Case Report

Mei Deng, Yuan-zong Song, Jian-wu Qiu, 2018, Front. Pediatr..

[Clinical and genetic analysis of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency].

Ying Cheng, Mei Deng, Yuan-zong Song, 2018, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

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.

[Sodium taurocholate cotransporting polypeptide deficiency manifesting as cholestatic jaundice in early infancy: a complicated case study].

Mei Deng, Yuan-zong Song, 2017, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.