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期刊名:Intractable & rare diseases research

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ISSN:2186-3644

e-ISSN:2186-361X

IF/分区:1.6/Q2

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共收录本刊相关文章索引606
Clinical Trial Case Reports Meta-Analysis RCT Review Systematic Review
Classical Article Case Reports Clinical Study Clinical Trial Clinical Trial Protocol Comment Comparative Study Editorial Guideline Letter Meta-Analysis Multicenter Study Observational Study Randomized Controlled Trial Review Systematic Review
Ankoor Talwar,Athira Rajeev,Shasank Rachapudi et al. Ankoor Talwar et al.
Pneumomediastinum is a rare condition defined by the presence of air in the mediastinum. In the absence of traumatic injury, iatrogenic injury, or clear etiology, it is called spontaneous pneumomediastinum (SPM). Spontaneous pneumomediastin...
Xiqi Hu,Ya-Nan Ma,Kenji Karako et al. Xiqi Hu et al.
The global aging population has led to a significant rise in the prevalence of age-related non-communicable diseases such as dementia and other cognitive disorders. In 2019, there were 57.4 million people with dementia worldwide, and this n...
Xiangdong Zhang,Lixing Zhou,Jiao Liu et al. Xiangdong Zhang et al.
The aim of this study was to investigate a novel FBN1 gene mutation in a pediatric patient with Marfan syndrome (MFS) to provide a theoretical basis for genetic counseling. The subject was a 5-month-old male infant. With informed consent fr...
Maitane García,Imanol Amayra,Manuel Pérez et al. Maitane García et al.
Chiari Malformation type I (CM-I) is a neurological disorder characterized by cerebellar tonsillar herniation. Chronic pain, particularly headaches, is a prevalent symptom in CM-I patients, significantly impacting their quality of life. The...
Małgorzata Syczewska,Anna Stęplowska,Ewa Szczerbik et al. Małgorzata Syczewska et al.
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group (genetically and phenotypically) of genetically determined disorders. Up to date there is no cure for this disease, so the applied treatments focus on symptoms c...
Elina Beleva Elina Beleva
Paroxysmal nocturnal hemoglobinuria is a rare clonal hematopoietic stem cell disorder with debilitating health consequences if untreated. Although cases have been described globally, precise epidemiological distribution is difficult to asse...
Xi Rong,Meijie Qu,Liwei Jiang et al. Xi Rong et al.
Myasthenia gravis (MG) is an autoimmune disease mediated by B cells and is associated with acetylcholine receptor (AChR) and muscle-specific receptor tyrosine kinase (MuSK) antibodies in the postsynaptic membrane at the neuromuscular juncti...
Yashuang Luo,Wendi Cheng,Yuyan Fu et al. Yashuang Luo et al.
This study aimed to assess the cost-utility of romiplostim (ROMI) compared to eltrombopag (EPAG) as a second-line treatment for chronic primary immune thrombocytopenia (cITP) in Chinese adults. A decision tree-embedded Markov model with a l...
Tetsuya Shimizu,Hiroshi Yoshida,Nobuhiko Taniai et al. Tetsuya Shimizu et al.
Extrahepatic portal vein obstruction (EHPVO) is a rare disease with myeloproliferative neoplasm (MPN) as the most common cause. We report that hypersplenic hematologic changes in EHPVO might be eliminated by MPN. Through experience with spl...
Chihiro Kamimura,Junko Fujitani,Isao Aizawa et al. Chihiro Kamimura et al.
Individuals with thalidomide embryopathy are now approximately 60 years old. For years, they have been compensating for their hypoplastic limbs in various aspects of daily living, and they face secondary problems such as limb and back pain....