Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Beijing Society of Rare Disease Clinical Care and Accessibility"'
Autor:
China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Medical Genome Committee
Publikováno v:
罕见病研究, Vol 3, Iss 3, Pp 275-279 (2024)
With the development of medical genomics, whole genome sequencing (WGS) has been playing an increasingly important role in the diagnosis and treatment of rare diseases. To effectively promote the application of WGS in clinical diagnosis and treatment
Externí odkaz:
https://doaj.org/article/cad63ca6ad8b4f6fa6073e7ed53c5cc1
Autor:
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Bartter Syndrome Consensus Working Group
Publikováno v:
罕见病研究, Vol 3, Iss 1, Pp 87-101 (2024)
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure. In severe cases, preterm delivery, hy
Externí odkaz:
https://doaj.org/article/5d429952469445eea5e4e008cfed1c3d
Autor:
Rare Disease Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, China Expert Group for Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy
Publikováno v:
罕见病研究, Vol 2, Iss 3, Pp 377-397 (2023)
In recent years, spinal muscular atrophy (SMA) has made progress in multidisciplinary treatment and disease-modifying therapeutic drugs, so that the progress has significantly improved the survival and quality of life of the patients. However, no cli
Externí odkaz:
https://doaj.org/article/09ccf4ba805f44f4ae7881637bfb927b
Autor:
Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Disease, Beijing Society of Rare Disease Clinical Care and Accessibility, Gitelman Syndrome Consensus Working Group
Publikováno v:
罕见病研究, Vol 1, Iss 1, Pp 56-67 (2022)
In recent years, research on the clinical phenotypes, new classifications, modified functional tests, biomarkers and management experience for patients with Gitelman syndrome (GS)has made a lot of progress in China. Based on evidence-based medicine,
Externí odkaz:
https://doaj.org/article/2728ef6a45774a8b93e6682431f7b3be
Autor:
Liang W; Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.; International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China., Cao S; Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.; International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China., Suo Y; Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.; International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China., Zhang L; Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.; International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China., Yang L; Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.; International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China., Wang P; Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.; International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China., Wang H; Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.; International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China., Wang H; Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.; International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China., Bai G; Children's Hospital, Zhejiang University School of Medicine, National Children's Regional Medical Center, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China., Li Q; China Alliance for Rare Diseases, Beijing, China.; Beijing Society of Rare Disease Clinical Care and Accessibility, Beijing, China., Zheng J; China Alliance for Rare Diseases, Beijing, China.; Beijing Society of Rare Disease Clinical Care and Accessibility, Beijing, China., Jin X; Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.; International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.
Publikováno v:
Frontiers in public health [Front Public Health] 2024 Aug 21; Vol. 12, pp. 1398803. Date of Electronic Publication: 2024 Aug 21 (Print Publication: 2024).
Autor:
Xu RH; Department of Rehabilitation Sciences, The Hong Kong Polytechnic University, Hong Kong SAR, China., Dong D; JC School of Public Health and Primary Care, The Chinese University of Hong Kong, Hong Kong SAR, China. dongdong@cuhk.edu.hk.; Centre for Health Systems and Policy Research, JC School of Public Health and Primary Care, The Chinese University of Hong Kong, Hong Kong SAR, China. dongdong@cuhk.edu.hk.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, Guangdong, China. dongdong@cuhk.edu.hk.; 4/F School of Public Health, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, NT, Hong Kong SAR, China. dongdong@cuhk.edu.hk., Luo N; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore., Wong EL; JC School of Public Health and Primary Care, The Chinese University of Hong Kong, Hong Kong SAR, China.; Centre for Health Systems and Policy Research, JC School of Public Health and Primary Care, The Chinese University of Hong Kong, Hong Kong SAR, China., Yang R; Thrombosis and Hemostasis Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China., Liu J; Beijing Society of Rare Disease Clinical Care and Accessibility, Beijing, China., Yuan H; School of International Pharmaceutical Business, China Pharmaceutical University, Nanjing, Jiangsu, China., Zhang S; Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, 100730, China. shuyangzhang103@nrdrs.org.
Publikováno v:
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation [Qual Life Res] 2022 May; Vol. 31 (5), pp. 1533-1544. Date of Electronic Publication: 2021 Nov 30.
Autor:
Xu RH; Department of Rehabilitation Sciences, The Hong Kong Polytechnic University, Kowloon, Hong Kong., Dong D; JC School of Public Health and Primary Care, The Chinese University of Hong Kong, Shatin, Hong Kong.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, Guangdong, China., Luo N; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore., Yang R; Thrombosis and Hemostasis Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China., Liu J; Beijing Society of Rare Disease Clinical Care and Accessibility, Beijing, China., Zhang S; Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China.
Publikováno v:
Frontiers in medicine [Front Med (Lausanne)] 2021 Aug 05; Vol. 8, pp. 707998. Date of Electronic Publication: 2021 Aug 05 (Print Publication: 2021).
Autor:
Xu RH; JC School of Public Health and Primary Care, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China.; Centre for Health Systems and Policy Research, JC School of Public Health and Primary Care, The Chinese University of Hong Kong, Hong Kong SAR, China., Dong D; JC School of Public Health and Primary Care, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China. dongdong@cuhk.edu.hk.; Centre for Health Systems and Policy Research, JC School of Public Health and Primary Care, The Chinese University of Hong Kong, Hong Kong SAR, China. dongdong@cuhk.edu.hk.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, Guangdong, China. dongdong@cuhk.edu.hk., Luo N; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore., Wong EL; JC School of Public Health and Primary Care, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China.; Centre for Health Systems and Policy Research, JC School of Public Health and Primary Care, The Chinese University of Hong Kong, Hong Kong SAR, China., Wu Y; JC School of Public Health and Primary Care, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China.; Centre for Health Systems and Policy Research, JC School of Public Health and Primary Care, The Chinese University of Hong Kong, Hong Kong SAR, China., Yu S; JC School of Public Health and Primary Care, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China., Yang R; Thrombosis and Hemostasis Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China., Liu J; Beijing Society of Rare Disease Clinical Care and Accessibility, Beijing, China., Yuan H; Beijing Society of Rare Disease Clinical Care and Accessibility, Beijing, China., Zhang S; Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. shuyangzhang103@nrdrs.org.
Publikováno v:
The European journal of health economics : HEPAC : health economics in prevention and care [Eur J Health Econ] 2021 Jun; Vol. 22 (4), pp. 547-557. Date of Electronic Publication: 2021 Mar 24.