云南高校图书馆联盟文献共享服务平台- INBORN

INBORN: 作品数：18被引量：40H指数：4; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：吕静荣黄治物吴皓冯永刘亚兰更多>>; 相关机构：中国人民解放军总医院上海交通大学上海交通大学医学院附属新华医院中南大学更多>>; 相关期刊：《中国耳鼻咽喉头颈外科》《英语角》《World Journal of Gastroenterology》《World Journal of Pediatrics》更多>>; 相关基金：卫生行业科研专项高等学校全国优秀博士学位论文作者专项资金国家自然科学基金北京市重大科技计划项目更多>>

Current understanding of ELF4 deficiency:a novel inborn error of immunity: 《World Journal of Pediatrics》2024年第5期444-450,共7页Hong-Qiang Du Xiao-Dong Zhao; funded by National Natural Science Foundation of China(82101908,82371823);Postdoc Fund of Chongqing Natural Science Foundation(cstc2021jcyj-bshX0226).; Background ELF4 deficiency has been recently recognized as a novel disorder within the spectrum of inborn errors of immunity(IEIs),specifically categorized as a“disease of immune dysregulation.”Cases of this conditi...; 关键词：ELF4 transcription factor Immune dysregulation Inborn errors of immunity Mechanism Recurrent infections

Diagnosis and treatment of an inborn error of bile acid synthesis type 4:A case report: 《World Journal of Clinical Cases》2021年第26期7923-7929,共7页Shou-Hao Wang Tian-Chen Hui Zhe-Wen Zhou Cheng-An Xu Wen-Hao Wu Qing-Qing Wu Wei Zheng Qiao-Qiao Yin Hong-Ying Pan; BACKGROUND Inborn error of bile acid synthesis type 4 is a peroxisomal disease with impaired bile acid synthesis caused by a-methylacyl-CoA racemase(AMACR)gene mutation.The disease is usually found in children with mi...; 关键词：Bile acid synthesis A-methylacyl-CoA racemase gene Gene mutation Inborn error of metabolism Ursodeoxycholic acid Case report

Confidence Is Built,Not Inborn: 《英语角》2018年第7期38-39,共2页; Confidence plays a very important role in people＇s life. It gives people lightwhen they are in dark and encouragement when they are worried. It is the firststep on the road to success. People who show confidence seem...; 关键词：英语学习学习方法阅读知识阅读材料

Dolichocolon revisited: An inborn anatomic variant with redundancies causing constipation and volvulus被引量：6: 《World Journal of Gastrointestinal Surgery》2018年第2期6-12,共7页Dennis Raahave; The objective of this review is to examine whether a redundant colon gives rise to symptoms like constipation and volvulus. In 1820, Monterossi made drawings of colons with displacements and elongation of the colon fo...; 关键词：Dolichocolon COLON elongatum Functional gastrointestinal disorders CONSTIPATION VOLVULUS

Anselm＇s Metaphysics in the Lineage of Parmenides： Nihil est per nihil: 《Journal of Philosophy Study》2016年第8期472-478,共7页Maria Leonor Xavier; Among those who pay homage to Parmenides as a source of unquenchable inspiration for Western thought, we now revisit the Poem Of Nature as the birthplace of the principle of causality through the elimination of non-be...; 关键词：PARMENIDES Saint Anselm Monologion nothing Principle of Causality being inborn METAPHYSICS

Hepatocyte transplantation program:Lessons learned andfuture strategies被引量：3: 《World Journal of Gastroenterology》2016年第2期874-886,共13页Eugenia Pareja Ibars Miriam Cortes Laia Tolosa Maria JoséGómez-Lechón Slivia López JoséVicente Castell JoséMir; This review aims to share the lessons we learned over time during the setting of the hepatocyte transplantation(HT) program at the Hepatic Cell Therapy Unit at Hospital La Fe in Valencia. New sources of liver tissue f...; 关键词：HEPATOCYTE TRANSPLANTATION Hepatocyteisolation Cell therapy INBORN errors of metabolism NEONATAL HEPATOCYTES CRYOPRESERVATION

从遗传性聋基因筛查到基因诊断——我们的路还有多远被引量：6: 《中国耳鼻咽喉头颈外科》2015年第2期55-56,共2页冯永刘亚兰; 聋病是人类常见的致残性疾病,2013年世界卫生组织(WHO)发布的最新评估数据显示,全球目前共有3.6亿人存在不同程度的听力障碍,占全球总人口的5%,而中国的听力残疾人有2780万,居各类残疾之首(33%)。其中60%的聋是由遗传因素引起的遗传性聋...; 关键词：聋(Deafness) 遗传性疾病先天性(Genetic Diseases Inborn) 基因(Genes) 突变筛查(Mutation Screening)

Inborn and acquired metabolic defects in cancer: 《世界最新医学信息文摘》2015年第5期6-,共1页Christian Frezza Patrick J Pollard Eyal Gottlieb; The observation that altered metabolism is the fundamental cause of cancer was made by Otto Warburg nearly a century ago. However, the subsequent identification of oncogenes and tumor suppressor genes has displaced Wa...; 关键词：CANCER Metabolism Mutation SUCCINATE DEHYDROGENASE FUMARATE hydratase ISOCITRATE DEHYDROGENASE

Mongolian spots:How important are they?被引量：4: 《World Journal of Clinical Cases》2013年第8期230-232,共3页Divya Gupta Devinder Mohan Thappa; Mongolian spots(MS) are congenital birthmarks seen most commonly over the lumbosacral area. They are bluish-green to black in color and oval to irregular in shape. They are most commonly found in individuals of Africa...; 关键词：MONGOLIAN SPOT INBORN ERRORS of METABOLISM

Glycogenotic hepatocellular carcinoma with glycogen-ground-glass hepatocytes: A heuristically highly relevant phenotype被引量：5: 《World Journal of Gastroenterology》2012年第46期6701-6708,共8页Peter Bannasch; Glycogenotic hepatocellular carcinoma (HCC) with glycogen-ground-glass hepatocytes has recently been described as an allegedly "novel variant" of HCC, but neither the historical background nor the heuristic relevance ...; 关键词：Acquired focal hepatic glycogenosis Inborn hepatic glycogenosis Hepatic preneoplasia Hepatic neoplasia Early metabolic aberrations Progression-linked metabolic switch

INBORN