Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report

por Liu, Rui, Mo, Gui-Ling, Song, Yuan-Zong
Publicado 2021

In-depth understanding of Pearson syndrome arising from a novel large mitochondrial DNA deletion in an infant case

por Liu, Rui, Mo, Gui-Ling, Song, Yuan-Zong
Publicado 2021

Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case repor...

por Tan, Hao-Yi, Wang, Bin, Song, Yuan-Zong
Publicado 2022

Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients

por Liu, Rui, Tian, Jing-Li, Huang, Xiao-Ling, Song, Yuan-Zong
Publicado 2022

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

por Zhang, Zhan-Hui, Lin, Wei-Xia, Zheng, Qi-Qi, Guo, Li, Song, Yuan-Zong
Publicado 2017

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

por Tan, Hui-Jun, Deng, Mei, Qiu, Jian-Wu, Wu, Jun-Feng, Song, Yuan-Zong
Publicado 2018

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

por Deng, Mei, Mao, Man, Guo, Li, Chen, Feng-Ping, Wen, Wang-Rong, Song, Yuan-Zong
Publicado 2016

Molecular Epidemiology of Na(+)-Taurocholate Cotransporting Polypeptide Deficiency in Guangdong Province, China: A Pilot Study by Screening for Four Prevalent Variants of the Causa...

por Li, Hua, Chen, Rong, Lin, Gui-Zhi, Lin, Wei-Xia, Yaqub, Muhammad-Rauf, Song, Yuan-Zong
Publicado 2022

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

por Zhang, Zhan-Hui, Lin, Wei-Xia, Deng, Mei, Zhao, Shu-Tao, Zeng, Han-Shi, Chen, Feng-Ping, Song, Yuan-Zong
Publicado 2014

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 SLC2...

por ZENG, HAN-SHI, ZHAO, SHU-TAO, DENG, MEI, ZHANG, ZHAN-HUI, CAI, XIANG-RAN, CHEN, FENG-PING, SONG, YUAN-ZONG
Publicado 2014

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirub...

por Qiu, Jian-Wu, Deng, Mei, Cheng, Ying, Atif, Raza-Muhammad, Lin, Wei-Xia, Guo, Li, Li, Hua, Song, Yuan-Zong
Publicado 2017

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

por Chen, Rong, Yang, Feng-Xia, Tan, Yan-Fang, Deng, Mei, Li, Hua, Xu, Yi, Ouyang, Wen-Xian, Song, Yuan-Zong
Publicado 2022

Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Ci...

por Zheng, Qi-Qi, Zhang, Zhan-Hui, Zeng, Han-Shi, Lin, Wei-Xia, Yang, Heng-Wen, Yin, Zhi-Nan, Song, Yuan-Zong
Publicado 2016

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

por Li, Hua, Deng, Mei, Guo, Li, Qiu, Jian-Wu, Lin, Gui-Zhi, Long, Xiao-Ling, Xiao, Xiao-Min, Song, Yuan-Zong
Publicado 2019

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

por Lin, Hui, Qiu, Jian-Wu, Rauf, Yaqub-Muhammad, Lin, Gui-Zhi, Liu, Rui, Deng, Li-Jing, Deng, Mei, Song, Yuan-Zong
Publicado 2019

Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution

por Lin, Wei-Xia, Zeng, Han-Shi, Zhang, Zhan-Hui, Mao, Man, Zheng, Qi-Qi, Zhao, Shu-Tao, Cheng, Ying, Chen, Feng-Ping, Wen, Wang-Rong, Song, Yuan-Zong
Publicado 2016

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

por Guo, Li, Li, Bing-Xiao, Deng, Mei, Wen, Fang, Jiang, Jian-Hui, Tan, Yue-Qiu, Song, Yuan-Zong, Liu, Zhen-Huan, Zhang, Chun-Hua, Kobayashi, Keiko, Wang, Zi-Neng
Publicado 2011

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

por Song, Yuan-Zong, Zhang, Zhan-Hui, Lin, Wei-Xia, Zhao, Xin-Jing, Deng, Mei, Ma, Yan-Li, Guo, Li, Chen, Feng-Ping, Long, Xiao-Ling, He, Xiang-Ling, Sunada, Yoshihide, Soneda, Shun, Nakatomi, Akiko, Dateki, Sumito, Ngu, Lock-Hock, Kobayashi, Keiko, Saheki, Takeyori
Publicado 2013

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

por Deng, Li‐Jing, Ouyang, Wen‐Xian, Liu, Rui, Deng, Mei, Qiu, Jian‐Wu, Yaqub, Muhammad‐Rauf, Raza, Muhammad‐Atif, Lin, Wei‐Xia, Guo, Li, Li, Hua, Chen, Feng‐Ping, Ouyang, Ying, Huang, Yu‐Ge, Huang, Yue‐Jun, Long, Xiao‐Ling, Huang, Xiao‐Ling, Li, Shuang‐Jie, Song, Yuan‐Zong
Publicado 2021

Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China

por Lin, Wei-Xia, Yaqub, Muhammad Rauf, Zhang, Zhan-Hui, Mao, Man, Zeng, Han-Shi, Chen, Feng-Ping, Li, Wei-Ming, Cai, Wen-Zhe, Li, Ying-Qiang, Tan, Zhi-Yong, Sheng, Wei, Li, Zhi-Min, Tao, Xiao-Ling, Li, Yuan-Xia, Zhang, Jun-Ping, Han, Yao-Bin, Li, Yan, Duan, Wu-Qiong, Ye, Bao-Ni, Li, Ya-Rong, Song, Yuan-Zong
Publicado 2021