Current Status, Opportunities and Challenges of Rare Endocrine and Metabolic Diseases
WU Huixiao, LI Zongyue, XU Chao, ZHAO Jiajun
2023, 2(3): 319-324. DOI: 10.12376/j.issn.2097-0501.2023.03.001
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Classification, Diagnosis and Management Status of Carbohydrate Metabolic Rare Disorders
HUANG Yumeng, LIU Ming
2023, 2(3): 325-330. DOI: 10.12376/j.issn.2097-0501.2023.03.002
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The Syndromes of Resistance to Thyroid Hormone Beta
WANG Huangman, SHAN Zhongyan, TENG Xiaochun
2023, 2(3): 331-336. DOI: 10.12376/j.issn.2097-0501.2023.03.003
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Clinical Features and Mutation Analysis of Gordon Holmes Syndrome Associated with RNF216 Gene Mutation and a Literature Review
CHEN Meiping, YANG Hongbo, PAN Hui, FENG Feng, ZHU Yicheng, ZHU Huijuan
2023, 2(3): 337-345. DOI: 10.12376/j.issn.2097-0501.2023.03.004
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Clinical Characteristics and Diagnostic Experience of Adult Thyroid Langerhans Cell Histiocytosis with Diabetes Insipidus
WANG Qian, SUN Quanya, HE Min, ZHANG Shuo, XIANG Boni, LI Qiufan, WANG Yong, ZHANG Xialing, DING Tianling, YE Hongying
2023, 2(3): 346-352. DOI: 10.12376/j.issn.2097-0501.2023.03.005
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Clinical Characteristics of 5 Cases of Immune Checkpoint Inhibitor Induced Diabetes Mellitus
HAN Li, YU Jie, LIU Yiwen, FU Yong, PING Fan, LI Wei, ZHANG Huabing, XU Lingling, LI Yuxiu
2023, 2(3): 353-358. DOI: 10.12376/j.issn.2097-0501.2023.03.006
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Rare Manifestations of Common Diseases: Middle-Aged Male Polyuria-Headache-Inflammatory Granulomatous Lesions
ZHAO Yuxing, DUAN Lian, LYU Wei, YAO Yong, YOU Hui, ZHANG Wen, MA Jin, MAO Xinxin, ZHU Huijuan
2023, 2(3): 359-364. DOI: 10.12376/j.issn.2097-0501.2023.03.007
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Expert Consensus on Bilateral Inferior Petrosal Sinus Sampling in the Diagnosis of Cushing′s Syndrome (2023)
Chinese Medical Association Rare Diseases Branch, Hypothalamic and Pituitary Disease Group of China Alliance of Rare Diseases (CARD), Innovation Center of Pituitary Diseases, Peking Union Medical College Hospital
2023, 2(3): 365-376. DOI: 10.12376/j.issn.2097-0501.2023.03.008
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Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy
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
2023, 2(3): 377-397. DOI: 10.12376/j.issn.2097-0501.2023.03.009
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Imaging Characteristics of 68Ga-DOTATATE PET/CT in Tumor-Induced Osteomalacia
ZHANG Yuwei, JING Hongli
2023, 2(3): 398-405. DOI: 10.12376/j.issn.2097-0501.2023.03.010
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Exploring the Accessibility by Using the Hydroxycobalamin Preparations of High Concentration in Treating Methylmalonic Acidemia
LI Ruohan, DU Liping, JIE Hengbo, MEI Dan
2023, 2(3): 406-413. DOI: 10.12376/j.issn.2097-0501.2023.03.011
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Clinical Research Progress of the Non-Peptide Oral Somatostatin Receptor Ligand Paltusotine
LIU Yuke, TAN Huiwen
2023, 2(3): 414-419. DOI: 10.12376/j.issn.2097-0501.2023.03.012
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Irregular Menstruation-Hirsutism-Infertility: Clinical Management of Non-Classic Congenital Adrenal Hyperplasia
NIE Zhimei, DOU Jianxin, DU Jin, GU Weijun, LYU Zhaohui, DOU Jingtao, MU Yiming
2023, 2(3): 420-426. DOI: 10.12376/j.issn.2097-0501.2023.03.013
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Necrolytic Migratory Erythema—A Case Report of Pancreatic Occupying Lesion
HU Zhonghui, YANG Lu, LIU Yuehua, JIN Hongzhong, XU Qiang, LIU Wenjing, LUO Yaping, YANG Hongbo, WANG Tao
2023, 2(3): 427-431. DOI: 10.12376/j.issn.2097-0501.2023.03.014
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A Case of Senile Langerhans Cell Histiocytosis with Soft Tissue Mass as the Main Manifestation
XING Mingquan, WU Weixia, SUN Xiaoxing, WANG Qikai, HAN Hao, GE Hongfeng
2023, 2(3): 432-435. DOI: 10.12376/j.issn.2097-0501.2023.03.015
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Advances in Hormone Replacement Therapy for Adult Adrenal Insufficiency
CHEN Xiaoxue, LI Ran, ZHU Huijuan, LU Lin
2023, 2(3): 436-441. DOI: 10.12376/j.issn.2097-0501.2023.03.016
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Enzyme Replacement Therapy in the Treatment of Fabry Disease
YU Che, WANG Rong
2023, 2(3): 442-449. DOI: 10.12376/j.issn.2097-0501.2023.03.017
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Advances in the Diagnosis and Treatment for Ocular Complication on Mucopolysaccharidosis
SHI Meipan, SHI Caiping, DU Chixin
2023, 2(3): 450-454. DOI: 10.12376/j.issn.2097-0501.2023.03.018
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Current Status of Studies Measuring Health State Utility for 121 Rare Diseases
FENG Junchao, LI Shunping, CHEN Jingdan, XIE Shiyao, ZHANG Yue, JIANG Shijing
2023, 2(3): 455-462. DOI: 10.12376/j.issn.2097-0501.2023.03.019
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