Recent Polices and Practice in Rare Diseases in China
ZHANG Shuyang, ZHANG Xue
2022, 1(1): 1-6. DOI: 10.12376/j.issn.2097-0501.2022.01.001
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Construction and Application of National Rare Diseases Registry System of China
GUO Jian, LIU Peng, JING Zhicheng, LIU Jianmin, CHENG Jingqiu, DING Jie, GU Weihong, CHEN Limeng, ZHU Yicheng, ZHANG Shuyang
2022, 1(1): 7-12. DOI: 10.12376/j.issn.2097-0501.2022.01.002
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Current Status and Prospects of Screening for Newborn Hereditary Metaboolic Disease
GU Xuefan, HAN Lianshu, YU Yongguo
2022, 1(1): 13-19. DOI: 10.12376/j.issn.2097-0501.2022.01.003
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Management of Rare Diseases in Children: Status Quo, Progress and Prospects
LIU Wei, ZHANG Bili, HUANG Jinyue
2022, 1(1): 20-27. DOI: 10.12376/j.issn.2097-0501.2022.01.004
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Spinal Muscular Atrophy: History, Current Status and Future
DAI Yi, CUI Liying
2022, 1(1): 28-33. DOI: 10.12376/j.issn.2097-0501.2022.01.005
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The Advance in Research into Immunotherapy for Neuroendocrine Carcinoma of Digestive System
LU Ming, ZHANG Panpan, SHEN Lin
2022, 1(1): 34-37. DOI: 10.12376/j.issn.2097-0501.2022.01.006
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Advances in the Diagnosis, Treatment and Prognosis of Lymphangioleiomyomatosis
CHENG Chongsheng, LIU Song, YANG Yanli, HOU Guozhu, CHENH Wuying, ZHANG Tengyue, HU Danjing, TIAN Xinlun, XU Kaifeng
2022, 1(1): 38-44. DOI: 10.12376/j.issn.2097-0501.2022.01.007
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Progress in Diagnosis and Treatment of Autoimmune Hypophysitis
ZHAI Xiao, ZHU Huijuan
2022, 1(1): 45-50. DOI: 10.12376/j.issn.2097-0501.2022.01.008
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Anuria, Sudden Blindless, Confusion: A Case of Unusual "Adult Still Disease"
YUE Cai, LIU Yan, QIN Yan, JIAO Yuhao, SU Longxiang, XU Jun, LIU Wei, ZHAO Sen, YANG Lu, WANG Qian, LI Ningning, CHEN Youxin, HAN Bing, ZHANG Bo, LI Xuemei, CHEN Limeng
2022, 1(1): 51-55. DOI: 10.12376/j.issn.2097-0501.2022.01.009
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Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)
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
2022, 1(1): 56-67. DOI: 10.12376/j.issn.2097-0501.2022.01.010
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Erdheim-Chester Disease: Case Report
FAN Xiaoyuan, LIU Ting, YOU Hui, SUN Jian, CAO Xinxin, FENG Feng, WANG Fengdan
2022, 1(1): 68-71. DOI: 10.12376/j.issn.2097-0501.2022.01.011
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Consensus to 99mTechnetium-Pyrophosphate Scintigraphy in the Diagnosis of Transthyretin-related Cardiac Amyloidosis
REN Chao, TIAN Zhuang, HE Shan, WANG Xuezhu, HAO Zhixin, DING Jie, ZHANG Shuyang, HUO Li
2022, 1(1): 72-77. DOI: 10.12376/j.issn.2097-0501.2022.01.012
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Appraisal Concerns for the Clinical Research and Development of Drugs for Rare Diseases
TANG Ling, ZHANG Jie, ZHAO Boyuan, AI Xing, WANG Chaoyun, SE RI Geleng, LI Yuanhong, YANG Zhimin
2022, 1(1): 78-83. DOI: 10.12376/j.issn.2097-0501.2022.01.013
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Application Status, Problems and Suggestions of Commerical Health Insurance in Medical Security for Rare Dsieases in China
ZHANG Haiqin, LI Shunping, FENG Junchao
2022, 1(1): 84-88. DOI: 10.12376/j.issn.2097-0501.2022.01.014
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