儿童先天性代谢异常的新观点

A. Gropman
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引用次数: 0

摘要

为了强调儿童先天性代谢错误(IEMs)的重要性,并更新杂志读者在诊断、管理和治疗方面的最新进展,我们编辑了一期《儿科生物化学杂志》特刊,其中包括各种类型的先天性小分子错误(有机酸血症)、大分子错误(溶酶体疾病)、mtDNA疾病和代谢性肌肉疾病。另外一个部分致力于教育读者如何使用神经成像来研究iem。每位专家都与本刊的读者分享最新的知识。本期特刊将从临床、诊断、生化和治疗的角度提供IEMs的相关信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
New ideas in inborn errors of metabolism in children and infants
In order to highlight the importance of inborn errors of metabolism (IEMs) in children and to update the journal readers regarding the state of the art in diagnosis, management and treatment, we have compiled a special issue of the Journal of Pediatric Biochemistry comprising various types of inborn errors of small molecules (organic acidemias), large molecules (lysosomal disorders), mtDNA disorders, and metabolic muscle disease. One additional section is devoted to educate the reader regarding how neuroimaging can be used to study the IEMs. Each expert shares current knowledge with the readers of this journal. This Special Issue will provide information on IEMs from a clinical, diagnostic, biochemical and therapeutic perspective.
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