Zobrazeno 1 - 10
of 217
pro vyhledávání: '"Chunhua Zeng"'
Autor:
Zhizi Zhou, Yanna Cai, Xiuzhen Li, Zongcai Liu, Minzhi Peng, Yunting Lin, Xiaojian Mao, Chunhua Zeng, Li Liu, Wen Zhang
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionNonketotic hyperglycinemia (NKH) is a rare, life-threatening genetic disorder. The patients usually show heterogeneous and nonspecific symptoms, resulting in diagnosis challenges using conventional approaches. Here, the clinical presentat
Externí odkaz:
https://doaj.org/article/83404f85a3074449a8f934f1516a769a
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
Abstract Recently, a possible room-temperature superconductor known as LK-99 (Pb10-xCux(PO4)6O (0.9
Externí odkaz:
https://doaj.org/article/2d628f7bd12b4d65a1a32956b54c91c4
Autor:
Pengpeng Hu, Zhiqiang Li, Chunhua Zeng, Daoheng Zhu, Run Liu, Qianxin Su, Jieping Tang, Yamin Zhu
Publikováno v:
Frontiers in Marine Science, Vol 10 (2023)
The study of post-storm beach recovery is important for economic development and the protection of life in coastal areas. In this study, field observations were conducted for 21 days in the surf zone of Dongdao Beach, Hailing Island, China, after tro
Externí odkaz:
https://doaj.org/article/e788abc5e9894406b52855e0841fa406
Publikováno v:
Physical Review Research, Vol 6, Iss 1, p 013013 (2024)
Avalanches are sudden, destructive, and extremely difficult to forecast natural disasters that can result in numerous fatalities and extensive property damage. Given the immense danger posed by avalanches, there is a significant amount of attention p
Externí odkaz:
https://doaj.org/article/5001650b3c3c4bbba1e7cc3bb86cbe5e
Autor:
Yunting Lin, Xiaohong Chen, Bobo Xie, Zhihong Guan, Xiaodan Chen, Xiuzhen Li, Peng Yi, Rong Du, Huifen Mei, Li Liu, Wen Zhang, Chunhua Zeng
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Objective: Wiedemann-Steiner syndrome (WSS) is a rare autosomal dominant disorder caused by deleterious heterozygous variants of the KMT2A gene. This study aims to describe the phenotypic and genotypic features of Chinese WSS patients, and assess the
Externí odkaz:
https://doaj.org/article/95dfcda6cdf842699d3002ebcc11ca75
Autor:
Xinjiang Huang, Xi Yin, Dongyan Wu, Yanna Cai, Xiuzhen Li, Wen Zhang, Chunhua Zeng, Xiaojian Mao, Li Liu
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-8 (2022)
Abstract Background To investigate hypothalamic-pituitary-thyroid function in children of different ages, nutritional phases, and genotypes that were diagnosed with Prader-Willi syndrome (PWS), as well as the effects of recombinant human growth hormo
Externí odkaz:
https://doaj.org/article/cee83df085bc483ba88bd3674ba8959c
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Allan-Herndon-Dudley syndrome (AHDS) is an X-linked recessive neurodegenerative disorder caused by mutations in the SLC16A2 gene that encodes thyroid hormone transporter. AHDS has been rarely reported in China. Case presentation T
Externí odkaz:
https://doaj.org/article/f45e96853c22423fa30bdf4ef1e6c707
Autor:
Xinshuo Lu, Simin Li, Wen Zhang, Yunting Lin, Zhikun Lu, Yanna Cai, Xueying Su, Yongxian Shao, Zongcai Liu, Huiying Sheng, Yonglan Huang, Li Liu, Chunhua Zeng
Publikováno v:
BMC Gastroenterology, Vol 22, Iss 1, Pp 1-9 (2022)
Abstract Background Serum ceruloplasmin is one of the major diagnostic parameters for Wilson’s disease (WD). Age and gender difference of serum ceruloplasmin remain controversy. This study aims to assess diagnostic value of serum ceruloplasmin leve
Externí odkaz:
https://doaj.org/article/7d33b8e632c34ab0afd4d762e8918add
Publikováno v:
Physical Review Research, Vol 5, Iss 4, p 043009 (2023)
We investigate ratcheting heat flow in simple networks consisting of a one-dimensional nonlinear chain with a self-coupled loop when the average thermal bias is zero. The effects of coupling strength and temporally averaged environmental reference te
Externí odkaz:
https://doaj.org/article/9225d739ee464d1682dacf4d6f571fde
Autor:
Zhizi Zhou, Xueying Su, Yanna Cai, Tzer Hwu Ting, Wen Zhang, Yunting Lin, Aijing Xu, Xiaojian Mao, Chunhua Zeng, Li Liu, Xiuzhen Li
Publikováno v:
Lipids in Health and Disease, Vol 21, Iss 1, Pp 1-10 (2022)
Abstract Background Sitosterolemia is a lipid disorder characterized by the accumulation of phytosterols in plasma and organs, caused by mutations in the ABCG5 and/or ABCG8 genes. The disease is frequently misdiagnosed and mistreated as familial hype
Externí odkaz:
https://doaj.org/article/46094b49716b49fdbca4b77e5c9c1f38