Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Yang-li Dai"'
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-10 (2024)
Abstract Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, causing the inability to degra
Externí odkaz:
https://doaj.org/article/fa0cf8ca34fb4d4cabccc1d48a6437e2
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background Prader-Willi syndrome (PWS) is a rare multisystemic hereditary illness. Recombinant human growth hormone (rhGH) therapy is widely recognized as the primary treatment for PWS. This study aimed to examine how different PWS genotypes
Externí odkaz:
https://doaj.org/article/0ca12f4d223a485288857e4c2495ab33
Autor:
Jing-Wen Li, Shao-Jia Mao, Yun-Qi Chao, Chen-Xi Hu, Yan-Jie Qian, Yang-Li Dai, Ke Huang, Zheng Shen, Chao-Chun Zou
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Mucopolysaccharidoses (MPSs) are caused by a deficiency in the enzymes needed to degrade glycosaminoglycans (GAGs) in the lysosome. The storage of GAGs leads to the involvement of several systems and even to the death of the patient. In rece
Externí odkaz:
https://doaj.org/article/6cdc2eb428394ae4831ded230cfa1afb
Autor:
Rui Gu, Hui Wang, Chun-Lin Wang, Mei Lu, Miao Miao, Meng-Na Huang, Yi Chen, Yang-Li Dai, Ming-Qiang Zhu, Qiong Zhou, Chao-Chun Zou
Publikováno v:
Lipids in Health and Disease, Vol 23, Iss 1, Pp 1-12 (2024)
Abstract Objective To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients. Methods In this group, 26 children were diagn
Externí odkaz:
https://doaj.org/article/c8ca2aeeac9648a68ad56bfaf39e68d0
Autor:
Jiu-Ru Sun, Liang-Zhong Yang, Yang-Li Dai, Huang Wu, Siqi Li, Yi-Feng Xu, Youkui Huang, Hao Wu, Zheng Shen, Chaochun Zou, Ling-Ling Chen
Publikováno v:
RNA Biology, Vol 20, Iss 1, Pp 419-430 (2023)
The genetic disorder Prader-Willi syndrome (PWS) is mainly caused by the loss of multiple paternally expressed genes in chromosome 15q11-q13 (the PWS region). Early diagnosis of PWS is essential for timely treatment, leading to effectively easing som
Externí odkaz:
https://doaj.org/article/1a62c2abbc9b4152bba05d4ca2b9426e
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Prader–Willi syndrome (PWS) is a rare and multisystemic genetic disorder that is characterized by severe hypotonia, hyperphagia, short stature, and global developmental delay. Although early recombinant human growth hormone (rhG
Externí odkaz:
https://doaj.org/article/750f7e8a279b4499aaceae4c607e0ca5
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
ObjectiveThis study aimed to improve the cognition of mucolipidosis (ML) II and III alpha/beta by analyzing the clinical manifestations of two patients.MethodsThe clinical, biochemical, and molecular data of two clinical cases associated with ML II a
Externí odkaz:
https://doaj.org/article/afe5aea3ab9442feb4cd3665ee9f04c2
Autor:
Yang-Li, Dai1 (AUTHOR), Fei-Hong, Luo2 (AUTHOR), Hui-Wen, Zhang3 (AUTHOR), Ming-Sheng, Ma4 (AUTHOR), Xiao-Ping, Luo5 (AUTHOR), Li, Liu6 (AUTHOR), Yi, Wang2 (AUTHOR), Qing, Zhou7 (AUTHOR), Yong-Hui, Jiang8 (AUTHOR) yong-hui.jiang@yale.edu, Chao-Chun, Zou1 (AUTHOR) zcc14@zju.edu.cn, PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society (AUTHOR), Xiao-Ou, Shan (AUTHOR), Yu, Yang (AUTHOR), Hui-Feng, Zhang (AUTHOR), Zhi-Liang, Tian (AUTHOR), Bo, Sun (AUTHOR), Mei, Lu (AUTHOR), Ya-Ying, Cheng (AUTHOR), Ying, Yang (AUTHOR), Xiong-Ying, Yu (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 6/13/2022, Vol. 17 Issue 1, p1-13. 13p.
BackgroundPrader-Willi syndrome (PWS) is a rare neurodevelopmental disorder that is partially caused by maternal uniparental disomy (UPD) of chromosome 15. Copy-neutral loss of heterozygosity (CN-LOH) observed on the distal long arm of chromosome 15
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f12c92a367c2fadf5a5d3f9319330f6d
https://doi.org/10.21203/rs.3.rs-944633/v1
https://doi.org/10.21203/rs.3.rs-944633/v1
Autor:
Ke Huang, Hu Lin, Xuefeng Chen, Guanping Dong, Junfen Fu, Mingqiang Zhu, Li Zhang, Yang-Li Dai, Constantin Polychronakos, Wei Wu, Yangxi Li, Sihua Wang
Publikováno v:
European journal of endocrinology. 186(2)
Objective Recessive WFS1 mutations are known to cause Wolfram syndrome, a very rare systemic disorder. However, they were also found in non-syndromic diabetes in Han Chinese misdiagnosed with type 1 diabetes (T1D), a molecular cause that appears to b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48a112257205810e4d43f8c410425dc8
https://pubmed.ncbi.nlm.nih.gov/34792487
https://pubmed.ncbi.nlm.nih.gov/34792487