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To Promote the Application of Genetic Testing Technology in the Diagnosis and Treatment of Rare Diseases in China-Establishment and Work Prospect of Medical Genome Committee
China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Medical Genome Committee
2024, 3(3): 275-279. DOI: 10.12376/j.issn.2097-0501.2024.03.001
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The China Neonatal Genomes Project(CNGP): New Advances in the Cohort Study of Genotype and Phenotype of Rare Diseases
DONG Xinran, ZHOU Wenhao
2024, 3(3): 280-287. DOI: 10.12376/j.issn.2097-0501.2024.03.002
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To Identify High-Risk Adolescent and Adult Spinal Muscular Atrophy Populations: Exploration of Methods and Perspectives
ZHAO Yuying, ZHU Wenhua, DAI Yi
2024, 3(3): 288-294. DOI: 10.12376/j.issn.2097-0501.2024.03.003
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Advances in Clinical Genetics of the Ehlers-Danlos Syndromes
XU Kexin, LI Guozhuang, LI Qing, YIN Xiangjie, FANG Kun, WU Zhihong, ZHANG Jianguo, DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) Study Group, WU Nan
2024, 3(3): 295-303. DOI: 10.12376/j.issn.2097-0501.2024.03.004
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Work Plan for the Clinical Utility & Usefulness Measures Working Group of Medical Genome Committee
DONG Xinran, ZHOU Wenhao
2024, 3(3): 304-309. DOI: 10.12376/j.issn.2097-0501.2024.03.005
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Clinical Manifestations, Molecular Genetics and Gonadal Pathology of 416 Patients with Disorders of Sex Development: A Single-Center Cohort Study
LIN Wanjun, LIANG Cuili, FU Wen, ZHANG Liyu, JIA Wei, HU Jinhua, ZHANG Wen, LIN Yunting, NIU Huilin, FAN Liping, LU Zhikun, LI Duan, LIU Zongcai, SHENG Huiying, YIN Xi, CHEN Xiaodan, LIU Guochang, CHENG Jing, LIU Li
2024, 3(3): 310-317. DOI: 10.12376/j.issn.2097-0501.2024.03.006
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Analysis of Clinical Features of 13 Cases with Late-Onset Pompe Disease
JI Fang, HE Fangping, LI Yi, NI Jie, YU Lihua, MENG Fanxia, CHEN Haiyan, KE Qing
2024, 3(3): 318-325. DOI: 10.12376/j.issn.2097-0501.2024.03.007
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Withdrawal of Immunosuppressants and Low-Dose Steroids in Patients with Stable IgG4-RD (WInS IgG4-RD): An Investigator-Initiated, Multicentre, Open-Label, Randomised Controlled Trial
PENG Linyi, NIE Yuxue, FEI Yunyun, ZHANG Wen
2024, 3(3): 326-328. DOI: 10.12376/j.issn.2097-0501.2024.03.008
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A Case of Multidisciplinary Diagnosis and Treatment of Mitochondrial DNA Depletion Syndrome Type 7
SONG Wenjie, FAN Yue, LI Xu, LIU Yaping, DAI Yi, LIU Xingrong, FENG Feng, CHEN Xiaowei
2024, 3(3): 329-334. DOI: 10.12376/j.issn.2097-0501.2024.03.009
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Chinese Expert Consensus on the Diagnosis and Treatment of Adult Fabry Disease Cardiomyopathy
Chinese Society of Cardiology, Chinese Medical Association, Editorial Board of Chinese Journal of Cardiology
2024, 3(3): 335-344. DOI: 10.3760/cma.j.cn112148-20231008-00263
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The Interpretation of Guideline for Clinical Trials Design of Gene Therapy Products for Rare Diseases(Trial Version)
LIU Xiao, WU Xiyuan, LU Shuang
2024, 3(3): 345-349. DOI: 10.12376/j.issn.2097-0501.2024.03.011
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Advances in Bioanalytical Techniques and Pharmacokinetics/Pharmacodynamics Research of Adeno-Associated Viral Vector Gene Therapy Drugs
REN Jianwei, ZHENG Xin, HAN Xiaohong
2024, 3(3): 350-357. DOI: 10.12376/j.issn.2097-0501.2024.03.012
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Two Cases of Autosomal Recessive Marinesco-Sjögren Syndrome Caused by SIL1 Gene Mutations
QI Zhan, GUO Ruolan, HU Xuyun, GUO Jun, HAO Chanjuan
2024, 3(3): 358-362. DOI: 10.12376/j.issn.2097-0501.2024.03.013
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A Case Report of Hiatt-Neu-Cooper Neurodevelopmental Syndrome
GUO Jiajia, WU Yunhong, TAO Ladi
2024, 3(3): 363-367. DOI: 10.12376/j.issn.2097-0501.2024.03.014
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The Expanding Genetic Diagnostic Approaches for Patients with Primary Ciliary Dyskinesia Beyond the Exome
LI Yixuan, HE Miao, ZHENG Haixia, LIU Yaping
2024, 3(3): 368-374. DOI: 10.12376/j.issn.2097-0501.2024.03.015
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Research Progress on Gut Microbiota in Prader-Willi Syndrome
ZHOU Yu, MA Mingsheng
2024, 3(3): 375-380. DOI: 10.12376/j.issn.2097-0501.2024.03.016
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Advances in Genetics of Von Hippel-Lindau Disease and Its Related Treatments
LI Tianyi, TONG Anli
2024, 3(3): 381-386. DOI: 10.12376/j.issn.2097-0501.2024.03.017
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The Design and Consideration of Medical Genetics Training Courses for Clinical Physicians Specializing in Rare Diseases
LIU Yaping, SHEN Min, ZHANG Shuyang
2024, 3(3): 387-390. DOI: 10.12376/j.issn.2097-0501.2024.03.018
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Developing Syllabus for Rare Breast Diseases Using the Integrated Multimodality of Case-/Problem-/Resource-Based Learning
YAO Ru, ZHANG Jiahui, LIAN Jie, QU Yang, ZHANG Xinyue, HUANG Xin, GAO Lu, ZHAO Jun, HUANG Li, JIANG Yingzi, LUO Linzhi, SHEN Songjie, MAO Feng, SUN Qiang, PAN Bo, ZHOU Yidong
2024, 3(3): 391-399. DOI: 10.12376/j.issn.2097-0501.2024.03.019
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Survey on the Working Conditions of Doctors Engaged in Rare Diseases and Initial Discussion on Talent Training
ZHANG Lei, ZOU Linfeng, JI Peili, CHEN Limeng
2024, 3(3): 400-404. DOI: 10.12376/j.issn.2097-0501.2024.03.020
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Present Situation and Countermeasures of China′s Legal Responses to Rare Diseases
XIE Shiyao, LIU Ziyu, LI Shunping
2024, 3(3): 405-410. DOI: 10.12376/j.issn.2097-0501.2024.03.021
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