Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature

por Abuduxikuer, Kuerbanjiang, Feng, Jia-Yan, Lu, Yi, Xie, Xin-Bao, Chen, Lian, Wang, Jian-She
Publicado 2018

Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature

por Abuduxikuer, Kuerbanjiang, Li, Zhong-Die, Xie, Xin-Bao, Li, Yu-Chuan, Zhao, Jing, Wang, Jian-She
Publicado 2019

The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis

por Wang, Neng-Li, Chen, Lian, Lu, Yi, Xie, Xin-Bao, Lin, Jing, Abuduxikuer, Kuerbanjiang, Wang, Jian-She
Publicado 2022

Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency

por Wang, Neng-Li, Lin, Jing, Chen, Lian, Lu, Yi, Xie, Xin-Bao, Abuduxikuer, Kuerbanjiang, Wang, Jian-She
Publicado 2022

Non-invasive biomarkers for identification of vanishing bile duct syndrome among children with acute cholestatic hepatitis

por Wang, Neng-Li, Chen, Lian, Lin, Jing, Lu, Yi, Fang, Wei-Yuan, Xie, Xin-Bao, Wang, Jian-She
Publicado 2023

A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report

por Li, Jia-Qi, Xie, Xin-Bao, Feng, Jia-Yan, Chen, Lian, Abuduxikuer, Kuerbanjiang, Lu, Yi, Li, Yu-Chuan, Wang, Jian-She
Publicado 2018

A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions

por Wang, Neng-Li, Lu, Yu-Lan, Zhang, Ping, Zhang, Mei-Hong, Gong, Jing-Yu, Lu, Yi, Xie, Xin-Bao, Qiu, Yi-Ling, Yan, Yan-Yan, Wu, Bing-bing, Wang, Jian-She
Publicado 2016

Pediatric Wilson disease presenting as acute liver failure: Prognostic indices

por Fang, Wei-Yuan, Abuduxikuer, Kuerbanjiang, Shi, Peng, Qiu, Yi-Ling, Zhao, Jing, Li, Yu-Chuan, Zhang, Xue-Yuan, Wang, Neng-Li, Xie, Xin-Bao, Lu, Yi, Knisely, A S, Wang, Jian-She
Publicado 2021

NTCP Deficiency Causes Gallbladder Abnormalities in Mice and Human Beings

por Mao, Fengfeng, Wang, Meng-Xuan, Hou, Xinfeng, Zhou, Zhongmin, Yan, Yan-Yan, Fang, Ling-Juan, Tan, Zexi, Fang, Wei-Yuan, Liu, Teng, He, Wenhui, Li, Cong, Xie, Xin-Bao, Lu, Shi-Qi, Sui, Jianhua, Wang, Fengchao, Han, Jun, Wang, Jian-She, Li, Wenhui
Publicado 2020