Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Qing-Wen Shan"'
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-10 (2024)
Abstract Background Galactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe manifestation of classic galactosemia is caused by galactose-1-phosphate uridylyltransferase (GALT
Externí odkaz:
https://doaj.org/article/360a55cc99bd4b19938c2362c7edcda8
Publikováno v:
Frontiers in Surgery, Vol 11 (2024)
ObjectiveTo study the effectiveness of liver transplantation (LT) in treating mitochondrial DNA depletion syndrome (MDS) caused by the MPV17 gene variant.Case presentationA boy aged 2.8 years presented with edema of the lower limbs and abdomen, which
Externí odkaz:
https://doaj.org/article/b7b09c359eb54948adfb5003686da897
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundWilson’s disease (WD) is a rare cause of acute liver failure (ALF) and has a high fatality rate. Rapid and accurate diagnosis is important for ALF because of WD (ALF-WD). Our objective was to establish a simple, rapid, and accurate diagno
Externí odkaz:
https://doaj.org/article/2503bf80b150405abbb2b8f1bbbad694
Autor:
Chu-ning Wang, Jianning Tong, Bin Yi, Benedikt D. Huttner, Yibing Cheng, Shuangjie Li, Chaomin Wan, Qingxiong Zhu, Qionghua Zhou, Shiyong Zhao, Zhiqiang Zhuo, Daobin Wang, Chunmei Jia, Qing-wen Shan, Yun Zhao, Chenfu Lan, Dongchi Zhao, Yibo Zhou, Jing Liu, Chunhui Zhu, Yu Zhu, Rui Li, Xiaodan Wu, Zhenghong Qi, Caihong Wang, Huiling Gao, Wenyu Ye, Liling Zhang, Xiaohong Xu, Hui Hu, Pu Yang, Nicola Magrini, Mei Zeng
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Background: Antimicrobial resistance is a significant clinical problem in pediatric practice in China. Surveillance of antibiotic use is one of the cornerstones to assess the quality of antibiotic use and plan and assess the impact of antibiotic stew
Externí odkaz:
https://doaj.org/article/ffcf55bc77454c458009634d89fa4710
Publikováno v:
Indian journal of pediatrics.
Autor:
Mei-Xiong Yang, Zi-Li Lv, Li Huang, Lian-Cheng Lan, Xiu-Qi Chen, Qing Tang, Xia Yang, Qing-Wen Shan
Publikováno v:
World Journal of Clinical Cases
BACKGROUND The ATP6AP1 gene coding for the accessory protein Ac45 of the vacuolar-type adenosine triphosphatases (V-ATPase) is located on chromosome Xq28. Defects in certain subunits or accessory subunits of the V-ATPase can lead to congenital disord
Publikováno v:
Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy. 12:2583-2587
Purpose This study aims to report the clinical features of an infant with CGL in a Chinese Zhuang ethnic family, whose family members were discovered to carry new pathogenic mutations in the BSCL2. Patients and methods In this study, we report clinic
Publikováno v:
Medicine
To develop a noninvasive model to predict significant fibrosis in children with chronic hepatitis B (CHB). A total of 116 CHB pediatric patients who underwent liver biopsy were included in the study. Liver histology, which is the gold standard for as
Publikováno v:
Journal of Tropical Pediatrics. 67
Intestinal myiasis caused by fly larvae parasitic in gastrointestinal tract was rare reported in children. We reported an infant with bloody diarrhea caused by intestinal myiasis. A 1 year and 7 months old boy presented with the only symptom of blood
Autor:
Yuan-Yuan, Qin, Xuan, Zhang, Li-Qun, Xiang, Qing-Wen, Shan, Shou-Dong, Li, Jie, Yan, Fa-Quan, Lin
Publikováno v:
Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
Purpose This study aims to report the clinical features of an infant with CGL in a Chinese Zhuang ethnic family, whose family members were discovered to carry new pathogenic mutations in the BSCL2. Patients and methods In this study, we report clinic