The Diagnosis and Treatment of Rare Diseases in Children: Now and Future
HAO Chanjuan, NI Xin
2022, 1(3): 229-232. DOI: 10.12376/j.issn.2097-0501.2022.03.001
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The Status Quo and Prospects of Diagnosis and Treatment of Rare Kidney Disease in Children
ZHANG Yanqin, WANG Fang, DING Jie
2022, 1(3): 233-237. DOI: 10.12376/j.issn.2097-0501.2022.03.002
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Autoinflammatory Diseases: a Rapidly Advancing Field
GAO Sihao, SONG Hongmei
2022, 1(3): 238-244. DOI: 10.12376/j.issn.2097-0501.2022.03.003
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Pathogenesis based Precision Therapy for Inborn Errors of Immunity
SHU Zhou, MAO Huawei
2022, 1(3): 245-251. DOI: 10.12376/j.issn.2097-0501.2022.03.004
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Clinical Characteristics and Treatment of Blau Syndrome in Chinese Children-a National Multicenter Study
ZHANG Junmei, ZHAO Xiaozhen, TANG Xuemei, ZHAO Yi'nan, LI Li, GAO Fengqiao, SHI Xinwei, JIN Yanliang, ZHANG Yu, CAO Lanfang, YIN Wei, XIAO Jihong, KUANG Weiying, DENG Jianghong, WANG Jiang, TAN Xiaohua, LI Chao, LI Shipeng, XUE Haiyan, LIU Cuihua, LIU Xiaohui, ZHAO Dongmei, CHEN Yuqing, ZHENG Wenjie, LI Caifeng
2022, 1(3): 252-258. DOI: 10.12376/j.issn.2097-0501.2022.03.005
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Clinical, Pathological and Genetic Analysis of Alport Syndrome in Children
NI Jie, CHEN Zhi, LING Chen, LIU Xiaorong
2022, 1(3): 259-267. DOI: 10.12376/j.issn.2097-0501.2022.03.006
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Clinical Features and Genetic Analysis of Autosomal Dominant and Recessive Hyperimmunoglobulin E Syndrome
WANG Shan, LIU Ying, XU Zigang, WANG Zhaoyang, JIAO Lei, LIANG Yuan, XU Zhe, MA Lin
2022, 1(3): 268-277. DOI: 10.12376/j.issn.2097-0501.2022.03.007
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Whole-Exome Sequencing Reveals Pediatric Rare Syndromic Hearing Loss
QU Chunyan, ZHOU Yi, CHEN Min, HAO Jinsheng, NI Xin, LIU Haihong
2022, 1(3): 278-282. DOI: 10.12376/j.issn.2097-0501.2022.03.008
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Quantitative Imaging Study of Liver and Spleen Lesions in Patients with Gaucher Disease
LI Di, TAO Xiaojuan, ZHANG Ningning, HUO Aihua, HU Di, LYU Yanqiu, ZHANG Yonghong, PENG Yun
2022, 1(3): 283-288. DOI: 10.12376/j.issn.2097-0501.2022.03.009
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Multidisciplinary Treatment on a Case of ROSAH Syndrome
ZHONG Linqing, MA Mingsheng, SUI Ruifang, HONG Xia, FENG Feng, HUO Li, DAI Menghua, XU Qiang, SONG Hongmei
2022, 1(3): 289-295. DOI: 10.12376/j.issn.2097-0501.2022.03.010
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Experts Consensus on Diagnosis and Treatment of Autoinflammatory Diseases
The Subspecialty Group of Rheumatology,the Society of Pediatrics, Chinese Medical Association, The Pediatric Group of Chinese Medical Doctor Association Committee on Rheumatology and Immunology, The Pediatric Group of Rheumatology and Immunology Professional Committee of Cross Strait Medical and Health Exchange Association, Immunology Professional Committee of Futang Children's Medical Development Research Center
2022, 1(3): 296-303. DOI: 10.12376/j.issn.2097-0501.2022.03.011
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Recommendations for Neuroblastoma Associated Opsoclonus-myoclonus-ataxia Syndrome in Childhood
Chinese Research Hospital Association- Children's Oncology Committee, FUTang Research Center of Pediatric Development- Children's Oncology Committee, FUTang Research Center of Pediatric Development- Children's Neurology Committee
2022, 1(3): 304-310. DOI: 10.12376/j.issn.2097-0501.2022.03.012
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A Patient with Sequential Diseases of Langerhans Cell Sarcoma, Langerhans Cell Histiocytosis, and Acute Lymphoblastic Leukemia
TIAN Yu, WANG Dong, WEI Ang, YANG Ying, ZHANG Liping, MA Honghao, WANG Chanjuan, CUI Lei, LI Zhigang, ZHANG Rui, WANG Tianyou
2022, 1(3): 311-317. DOI: 10.12376/j.issn.2097-0501.2022.03.013
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Vagus Nerve Stimulation in the Treatment of Dravet Syndrome
LIU Tinghong, YUAN Liu, XU Jinshan, WANG Yangshuo, LIANG Shuli
2022, 1(3): 318-324. DOI: 10.12376/j.issn.2097-0501.2022.03.014
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A Case of Renal Coloboma Syndrome Caused by Spontaneous Mutation of PAX2
LING Chen, CHEN Zhi, LIU Xiaorong
2022, 1(3): 325-328. DOI: 10.12376/j.issn.2097-0501.2022.03.015
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Mutation Analysis of the CYP4F22 Gene in a Family with Autosomal Recessive Congenital Ichthyosis
ZHANG Yingzi, XU Zhe, SHI Haitao, LIU Teng, ZHAO Yang
2022, 1(3): 329-333. DOI: 10.12376/j.issn.2097-0501.2022.03.016
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Female CYBB Mutation Mosaicism Leading to Inheritance of X-linked Chronic Granulomatous Disease
ZHANG Yue, SHU Zhou, LI Yan, PIAO Yurong, HAN Tongxin, MAO Huawei
2022, 1(3): 334-338. DOI: 10.12376/j.issn.2097-0501.2022.03.017
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Practice of the Qualification and Recognition for Orphan Drugs in the World and its Inspiration
ZHU Xiaohong, LI Shunping, CHEN Jingdan, FENG Junchao, ZHANG Haiqin, LIU Jiaqi, XIE Shiyao, ZHANG Yue
2022, 1(3): 339-346. DOI: 10.12376/j.issn.2097-0501.2022.03.018
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Recent Progress in Hepatic Involvement in Shwachman-Diamond Syndrome
LI Mengping, WANG Jianshe
2022, 1(3): 347-351. DOI: 10.12376/j.issn.2097-0501.2022.03.019
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Progress in Diagnosis and Treatment of Children having Fabry Disease
LI Xiaoxue, LIU Xiaorong
2022, 1(3): 352-358. DOI: 10.12376/j.issn.2097-0501.2022.03.020
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Progress in Biological Functions of NBAS Gene and Related Diseases
ZHAO Chenzi, ZHANG Qing, LI Zhigang
2022, 1(3): 359-364. DOI: 10.12376/j.issn.2097-0501.2022.03.021
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