Laboratory guide to the methods in biochemical genetics
Laboratory guide to the methods in biochemical genetics
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DOI：
10.1007/978-3-540-76698-8
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发表时间：
2008-05
期刊：
影响因子：
--
通讯作者：
N. Blau;M. Duran;K. Gibson
中科院分区：
文献类型：
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作者：
N. Blau;M. Duran;K. Gibson
近年来，由于世界范围内新生儿筛查的扩大，生化遗传学作为一门实验室学科的曝光率有所提高。由于需要对新生儿筛查阳性结果进行评价，大多数生化遗传学实验室的样本数量正在增加。因此，每个人（医生，患者，代谢专家和其他医疗保健提供者）的利益是生化遗传学实验室在其测试菜单上提供最新的方法。因此，本书的编辑尝试了对大多数实验室有用的实验室测试的汇编。每一章都是由专家编写的，目的是使每一章都“自给自足”。这种结构的实用性将防止需要参考其他技术文件，使技术在实验室中更快速的实施。生物化学遗传学中的大多数方法都是劳动密集型和复杂的，特别是与自动化测试实验室相比，因此基于实验室的纲要应该是一个有用和有价值的辅助工具。这是我们编写本版的目的。
In recent years, biochemical genetics has witnessed enhanced exposure as a laboratory discipline because of the advent of expanded newborn screening around the world. Sample numbers in most biochemical genetics laboratories are growing because of the required evaluation of positive newborn screening results. Accordingly, it is in everyone’s interest (physician, patient, metabolic specialist, and other healthcare providers) that biochemical genetics laboratories have the most up-todate methods available on their test menu. The editors of this new book have thereby attempted a compilation of laboratory tests that will be useful in most laboratories. Each chapter has been developed by experts, with the goal of making each chapter “self-sufficient.” The utility of such a structure will prevent the need to reference other technique papers, enabling a more rapid implementation of techniques in the laboratory. The majority of methods in biochemical genetics are labor-intensive and complex, especially when compared to the automated testing laboratory, and therefore a laboratory-based compendium should be a useful and valuable adjuvant. This has been our goal in compiling this edition.