The Metabolic and Molecular Bases of Inherited Disease CD-ROM (Version 1.0) Edited by C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle
The Metabolic and Molecular Bases of Inherited Disease CD-ROM (Version 1.0) Edited by C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle
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遗传性疾病的代谢和分子基础 CD-ROM（1.0 版）由 C.R. Scriver、A.L. Beaudet、W.S. 编辑
DOI：
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发表时间：
1997
影响因子：
4.2
通讯作者：
G. Addison
中科院分区：
文献类型：
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作者：
G. Addison
期待已久的由Charles Scriver及其同事编辑的《遗传疾病的代谢和分子基础》（MMBID）的CD-ROM版本现已出版。它以第7版（1995年）为基础，对70多个原始章节进行了大量更新。此外，还有32个涉及癌症和遗传学的新章节，相当于在现有的三卷印刷版上又增加了一卷。安装CD-ROM是快速和简单的，甚至那些不熟悉在互联网上使用浏览器的人也会发现所使用的软件，Folio VIEWS®，简单直观的学习。在每章的顶部，不仅可以选择文本，还可以轻松访问图表，表格和章节更新。有许多超文本特性允许跳转到图形、表格、参考文献和其他相关材料。用户还可以通过突出显示或添加注释和书签来标记文本，从而更新和个性化数据。一个有用的功能是增加了每种疾病的关键事实的摘要列表。使用有或没有索引的搜索工具查找信息都非常容易，这就是CD-ROM的优势最明显的地方。对数字的索引不太有用，并且出现了一些校对错误——例如19世纪的论文——但它确实在许多章节中发现了1996年的几百个参考文献和1997年的一些参考文献。然而，找到你想要的信息后，在屏幕上阅读就比较困难了。这可能是我们这一代人的特点，其他人可能不会觉得这是个问题。可以打印出文本的相关部分，但这部分浏览器有点麻烦，而且不容易选择想要的文本。最令人失望的是黑白图表的出现。这些是直接从印刷版扫描进来的，质量较差，缺乏清晰度。这使得它们不适合用于例如教学辅助工具。另一方面，临床照片、x光片等的再现更容易被接受。考虑到这个产品的成本，图表质量差是必须紧急解决的问题。然而，出版商告诉我，他们没有升级图片的计划，直到3-4年后的下一个印刷版。当然，现代扫描仪可以做得更好。MMBID的CD-ROM版本大大扩展了专门讨论本期刊读者不感兴趣的主题的章节。以前的版本在很大程度上致力于“经典”代谢的先天错误，这本书被视为这个主题最权威的来源。通过向癌症、染色体紊乱和其他遗传疾病领域的大规模扩张，编辑们进行了一场豪赌。有一个强有力的科学论据表明，所涵盖的疾病具有共同的遗传和代谢基础。典型的先天缺陷，即一种酶缺乏导致一种疾病，现在往往变成多因素的，而且在任何情况下都不是由一种疾病引起的，它完全是由结构失调引起的，或者是由结构失调引起的，或者是由受体引起的，或者是由基因突变引起的。然而，在肿瘤和肿瘤的专业之间存在着明显的临床差异
The long awaited CD-ROM version of The Metabolic and Molecular Bases of Inherited Disease (MMBID) edited by Charles Scriver and colleagues is now published. It is based on the 7th edition (1995) with substantial updates to over 70 of the original chapters. In addition there are 32 new chapters covering cancer and genetics – equivalent to adding another new volume to the existing three in the printed version. Installing the CD-ROM is quick and simple and even those unfamiliar with using browsers on the Internet will find the software used, Folio VIEWS®, simple and intuitive to learn. At the top of each chapter it is possible not only to select the text but to gain easy access to figures, tables and the chapter updates. There are a number of hypertext features to allow jumping to figures, tables, references and other related material. The user can also mark the text by highlighting or adding notes and bookmarks, thus both updating and personalizing the data. A useful feature is the addition of a summary listing of the key facts for each disorder. Finding information is very easy using the search facility both with and without the index, and this is where the advantage of the CD-ROM is most obvious. The indexing of numbers was less useful and showed up some proof-reading errors – papers from the 19th century for instance – but it did identify several hundred references from 1996 in many chapters and a few from 1997. It is more difficult, however, having found the information you want, to read it on the screen. This may be a function of my generation and others may not find it a problem. It is possible to print out the relevant parts of the text but this part of the browser is a little cumbersome and it was not easy to select just the text wanted. A major disappointment was the appearance of the black and white diagrams. These have been directly scanned in from the printed version and are inferior in quality, lacking sharpness. This makes them unsuitable for use, for example, in teaching aids. On the other hand the clinical pictures, radiographs, etc., are more acceptably reproduced. Given the cost of this product, the poor quality of the diagrams is something that must be urgently addressed. The publishers inform me, however, that they have no plans to upgrade the images until the next printed edition in 3–4 years’ time. Surely modern scanners can do better then this. The CD-ROM version of MMBID extends considerably the chapters devoted to subjects which will not be of prime interest to readers of this Journal. Previous editions have in greater part been devoted to ‘classical’ inborn errors of metabolism and the book is seen as the most authoritative source in this subject. By major expansion into the fields of cancer, chromosomal disorders and other genetic disease the editors have taken a large gamble. There is a strong scientific argument that the disorders covered have a common genetic and metabolic basis. Classical inborn errors in which a single enzyme deficiency causes a single disease have now often become multifactorial and in any case are not cl i n i c a l ly sep a rable from disord e rs of stru c t u ral, re c eptor or tra n s p o rt pro t e i n s . Nevertheless, there are sharp clinical differences between the specialities of oncology and