Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Yun-qi Chao"'
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, Yan-Jie Qian, Shao-Jia Mao, Yun-Qi Chao, Yi-Fang Qin, Chen-Xi Hu, Zheng-Lan Li, Chao-Chun Zou
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-6 (2024)
Abstract Background Maternal uniparental disomy for chromosome 6 (upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.
Externí odkaz:
https://doaj.org/article/ee8ea09ee7cb485fb6f8b3c8bb1d3baa
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
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Prader-Willi syndrome (PWS) is a rare genetic disease often associated with bone problems, mainly scoliosis and hip dysplasia (HD). This study aimed to analyze the clinical characteristics of orthopedic deformities in patients wit
Externí odkaz:
https://doaj.org/article/6fe887e1f9304d09852c12ebab2da34a
A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review
Autor:
Yu Qing Cai, Yun Qi Chao, Xiang Zhi Wang, Lan Fang Tang, Hang-Hu Zhang, Yingying Shu, Chengyun Xu
Publikováno v:
Open Forum Infectious Diseases
Major histocompatibility complex (MHC) II deficiency is a rare primary immunodeficiency disorder that is characterized by the deficiency of MHC class II molecules. The disease is caused by transcription factor mutations including class II transactiva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e9e06373911972b9562431844ca6a92
https://pubmed.ncbi.nlm.nih.gov/32875002
https://pubmed.ncbi.nlm.nih.gov/32875002
Publikováno v:
Indian journal of pediatrics. 87(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e9069ad35a5ea76c3e50e8254813c4e
https://pubmed.ncbi.nlm.nih.gov/31863392
https://pubmed.ncbi.nlm.nih.gov/31863392
Publikováno v:
Medicine. 98:e15013
Rationale:Sitosterolemia is a rare autosomal recessive disorder of dyslipidemia due to mutations of genes ABCG5 and ABCG8, leading to highly elevated plasma levels of plant sterols and expanded body pools of cholesterol.Patient concerns:We present a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8810f54ebc0ce5024ed40f9b646a6e2b
https://doi.org/10.1097/md.0000000000015013
https://doi.org/10.1097/md.0000000000015013
Publikováno v:
Current Gene Therapy; February 2020, Vol. 20 Issue: 1 p36-43, 8p