Journal of Inherited Metabolic Disease

期刊简介：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”).

【译文】《遗传代谢疾病杂志》（JIMD）是代谢性内源错误研究学会（SSIEM）的官方期刊。通过加强全球该领域工作者之间的沟通，JIMD旨在提高对遗传代谢疾病的理解和治疗。它发表关于人类和高等动物遗传代谢疾病任何方面的原创研究成果和新或重要观察。这包括临床（医学、牙科和兽医）、生化、遗传（包括细胞遗传学、分子和群体遗传学）、实验（包括细胞生物学）、方法学、理论、流行病学、伦理和咨询方面的内容。JIMD还回顾与代谢疾病相关的重要新进展或争议性问题，并发表来自学会年度研讨会的评论和简报。区分了经过同行评审的科学材料，这些材料因其对其他领域专业人士的重要性而被选中，以及非同行评审的材料，这些材料旨在重要、有争议、有趣或娱乐（“额外内容”）。