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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
Nobuhisa Akamatsu,Yasuhiko Sugawara,Norihiro Kokudo Nobuhisa Akamatsu
Acute liver failure (ALF) is defined by the presence of coagulopathy (International Normalized Ratio ≥ 1.5) and hepatic encephalopathy due to severe liver damage in patients without pre-existing liver disease. Although the mortality due to...
Lin Mei,Peipei Song,Lingzhong Xu Lin Mei
Phenylketonuria (PKU) is a treatable and preventable inherited metabolic disease. The overall incidence of PKU in China is 1/11,144. Newborn screening is an effective method of controlling PKU. In1981, the Chinese Government initiated a new...
Yoshinori Inagaki,Peipei Song Yoshinori Inagaki
The features of intractable diseases make it an important public health issue and a challenge to medical care worldwide. Investigation of intractable diseases with the support of government is urgently expected to activate clinical and phar...
Suguru Yamashita,Nobutaka Tanaka,Michiro Takahashi et al. Suguru Yamashita et al.
Biliary cystic tumors are rare hepatic neoplasms, and knowledge regarding the origin and pathology of these tumors remains vague. They should be analyzed in more detail. In our institution, 4 biliary cystic tumor surgeries were performed be...
Liang Jiang,Yazhou Cui,Jing Luan et al. Liang Jiang et al.
Matrix vesicles (MVs) play an important role in the initial stage of the process of bone mineralization, and are involved in multiple rare skeletal diseases with pathological mineralization or calcification. The aim of the study was to comp...
Yukimi Ohyoshi,Takamitsu Makino,Masatoshi Jinnin et al. Yukimi Ohyoshi et al.
Microvascular damage is one of the primary pathologic components of systemic sclerosis (SSc). Serological abnormalities of angiogenic and angiostatic factors in SSc have previously been described. Like these factors, the plasma levels of le...
Chi Zhang,Wenda Dai,Yi Yang et al. Chi Zhang et al.
Melorheostosis is an uncommon, non-genetic, non-developmental, sclerosing dysplasia of bone and adjacent soft tissues, with deformity of the extremity, pain, limb stiffness and limitation of motion. The characteristic radiographic appearanc...
Yao Wang,Zeying Liu,Zhenxing Liu et al. Yao Wang et al.
Achondroplasia is a rare autosomal dominant genetic disease. Research on achondroplasia in China, however, has received little emphasis. Around 80-90% of cases of neonatal achondroplasia result from mutations in fibroblast growth factor rec...
Jiayi Zhou,Bingqian Liu Jiayi Zhou
Alzheimer's disease (AD) is a devastating neurodegenerative disease with progressive loss of memory and cognitive function, pathologically hallmarked by aggregates of the amyloid-beta (Aβ) peptide and hyperphosphorylated tau in the brain. ...
Peipei Song,Norihiro Kokudo Peipei Song
Over the past 40 years, measures to combat intractable diseases in Japan have progressed substantially since the implementation of the "Outline of Measures to Combat Intractable Diseases" in 1972. However, many challenges remain. In order t...