Journal Of Inherited Metabolic Disease

雜志介紹

Journal Of Inherited Metabolic Disease雜志介紹

《Journal Of Inherited Metabolic Disease》是一本以English為主的未開放獲取國際優秀期刊，中文名稱遺傳代謝疾病雜志，本刊主要出版、報道醫學-ENDOCRINOLOGY & METABOLISM領域的研究動態以及在該領域取得的各方面的經驗和科研成果，介紹該領域有關本專業的最新進展，探討行業發展的思路和方法，以促進學術信息交流，提高行業發展。該刊已被國際權威數據庫SCIE收錄，為該領域相關學科的發展起到了良好的推動作用，也得到了本專業人員的廣泛認可。該刊最新影響因子為4.2，最新CiteScore 指數為9.5。

本刊近期中國學者發表的論文主要有：

• MOGS-CDG: Quantitative analysis of the diagnostic Glc(3)Man tetrasaccharide and clinical spectrum of six new cases

  Author: Post, Merel A. A.; de Wit, Isis; Zijlstra, Fokje S. M.; Engelke, Udo F. H.; van Rooij, Arno; Christodoulou, John; Tan, Tiong Yang; Le Fevre, Anna; Jin, Danqun; Yaplito-Lee, Joy; Lee, Beom Hee; Low, Karen J. J.; Mallick, Andrew A. A.; Ounap, Katrin; Pitt, James; Reardon, William; Vals, Mari-Anne; Wortmann, Saskia B. B.; Wessels, Hans J. C. T.; Barenfanger, Melissa; van Karnebeek, Clara D. M.; Lefeber, Dirk J. J.

• AMP-activated protein kinase activation in mediating phenylalanine-induced neurotoxicity in experimental models of phenylketonuria

  Author: Lihua Lu, Xiaoming Ben, Lingling Xiao, Min Peng, Yongjun Zhang

• Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study

  Author: Jun Ye, Yanling Yang, Weimin Yu, Hui Zou, Jianhui Jiang, Rulai Yang, Sunny Shang, Xuefan Gu

• Clinical features and <Emphasis Type="Italic">ETFDH</Emphasis> mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency

  Author: Jianying Xi, Bing Wen, Jie Lin, Wenhua Zhu, Sushan Luo, Chongbo Zhao, Duoling Li, Pengfei Lin, Jiahong Lu, Chuanzhu Yan

英文介紹

Journal Of Inherited Metabolic Disease雜志英文介紹

The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical (medical, dental and veterinary), biochemical, genetic (including cytogenetic, molecular and population genetic), experimental (including cell biological), methodological, theoretical, epidemiological, ethical and counselling aspects. The JIMD also reviews important new developments or controversial issues relating to metabolic disorders and publishes reviews and short reports arising from the Society's annual symposia. A distinction is made between peer-reviewed scientific material that is selected because of its significance for other professionals in the field and non-peer- reviewed material that aims to be important, controversial, interesting or entertaining (“Extras”).