The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds., 8th ed., McGraw-Hill, New-York, 2001, 7012 p., $550.00)
The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds., 8th ed., McGraw-Hill, New-York, 2001, 7012 p., $550.00)
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遗传性疾病的代谢和分子基础（Scriver, C. R.、Beaudet, A. L.、Sly, W. S.、Valle, D.、Childs, B.、Kinzler, K. W. 和 Vogelstein, B. 编辑，第 8 版，McGraw-
DOI：
10.1023/a:1017418800320
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发表时间：
2004
期刊：
影响因子：
--
通讯作者：
V. Rubio
中科院分区：
文献类型：
--
作者：
S. Yap;Nadine Gougeard;A. Hart;B. Barcelona;V. Rubio
0006 2979/02/6705 0611$27.00 © 2002 MAIK "Nauka/Intertina"本书的前七个版本为全世界的专家所熟知。1960年出版的《遗传病的代谢基础》一书的第一版引起了人类遗传艾德病领域专家的极大兴趣。目前的第八版是显着不同于其前身。首先，这本书的篇幅令人印象深刻。全书共4卷，总页数超过7000页。全文共30篇，255章。所有这些材料都是由一个庞大的国际作者团体撰写的，共有500多名撰稿人。这本书的编辑团队也增加了，现在包括三个新的编辑，巴顿查尔兹，肯尼斯金茨勒，伯特Vogelstein。第一卷共分七个部分，共76章。第1、2和3部分包括"导言"、"展望"和关于"人类基因组"计划、组织相容性复合体、人类基因突变和动物（小鼠）遗传性疾病模型的一般主题。也有章节致力于遗传突变的性质和机制，以及膜和细胞器的生物发生。第四部分是癌症。综述了癌症遗传学的主要概念、染色体改变、癌细胞的细胞周期和肿瘤的类型：肾癌、皮肤癌、乳腺癌、脑、肺、前列腺及其他器官和组织。第五部分总结了染色体、分子细胞遗传学和染色体连锁疾病（唐氏综合征、脆性X染色体综合征）的相关资料。第6部分考虑疾病的临床表型及其诊断和算法。第7部分分析碳水化合物代谢紊乱。不同类型的糖尿病以及与果糖和乳糖代谢紊乱一致的疾病、半乳糖血症、糖原病和与结肠中二糖代谢紊乱相关的疾病的特征。书的第二卷从第8部分开始，其中包含阐明氨基酸代谢紊乱的章节。在这些疾病中，重点是高苯丙氨酸血症，高酪氨酸血症，组氨酸，脯氨酸，羟脯氨酸和鸟氨酸，赖氨酸和甘氨酸代谢障碍。第九部分总结了有关器官酸代谢紊乱的资料。有信息alcap tonuria，疾病的丙酸和甲基丙二酸代谢，谷胱甘肽合成酶缺乏症和疾病的甘油代谢。第十部分介绍了线粒体功能障碍的特点。第11部分的章节集中在与嘌呤和嘧啶代谢紊乱相关的疾病。黄嘌呤尿、莱希尼汉病、腺苷九磷酸核糖转移酶和腺苷脱氨酶缺乏症以及其他病理也是特征性的。第12部分讨论了正常情况下和遗传病理学中的脂质代谢。本部分的章节包含血浆脂蛋白结构和代谢的描述，各种类型的家族性脂蛋白脂酶缺乏症，由胆汁酸生物合成缺乏引起的疾病，以及其他疾病。第13部分描述了与卟啉代谢紊乱有关的疾病。本文就血红素生物合成障碍和胆红素代谢障碍作一综述。第14部分包含3章关于金属代谢和运输障碍。描述了由铜转运障碍、遗传性血色病和亚硫酸氧化酶和钼辅因子缺乏引起的疾病。第15部分包括有关的章节引起的疾病的过氧化物酶体生物合成障碍，缺乏酶的数量在这些细胞器。还描述了X连锁肾上腺脑白质营养不良、Refsum病和原发性玛丽高尿症。第三卷的书包括大部分16，这是专门为溶酶体疾病。这类疾病如粘多糖沉积症、II型糖原沉积症、糖蛋白沉积症、糖脂沉积症等将在第21章中讨论。第17和18部分相应地描述了维生素和激素代谢障碍。第19部分是关于血液和体内平衡。这里有关于抗凝血蛋白C，纤维蛋白原和因子XIII代谢紊乱，关于血友病A和B，抗凝血酶缺乏症，纤维蛋白原代谢紊乱的章节遗传性疾病的代谢和分子基础
0006 2979/02/6705 0611$27.00 ©2002 MAIK “Nauka/Interperiodica” The previous seven editions of this book are well known to the large audience of specialists all over the world. Published in 1960, the first edition of the book titled “The Metabolic Basis of Inherited Disease” raised much interest among the specialists in the human inherit ed diseases field. The current eighth edition is significant ly different from its predecessors. First of all the extent of the book is impressive. The book consists of 4 volumes with the total number of over 7000 pages. There are 30 parts, containing 255 chapters. All this material is written by a large international group of authors, with the total number of over 500 contributors. The editorial team of the book also has increased, now including three new editors, Barton Childs, Kenneth Kinzler, and Bert Vogelstein. Volume I consists of seven parts and includes 76 chapters. Parts 1, 2 and 3 contain “Introduction”, “Perspectives” and general themes about the “Human Genome” project, histocompatibility complex, human genetic mutations and models of animal (mice) inherited diseases. There are also chapters devoted to the nature and mechanism of genetic mutations, and biogenesis of membranes and organelles. Part 4 is devoted to cancer. Reviewed are such ques tions as main concepts in cancer genetics, chromosome changes, cellular cycle of cancer cells and types cancer tumors: kidney carcinoma, skin cancer, breast cancer, brain, lungs, prostate and other organs and tissues. Part 5 concludes the data about chromosomes, molecular cytogenetics and chromosome linked diseases (Down syndrome, syndrome of fragile X chromosome). Part 6 considers the clinical phenotypes of diseases and their diagnosis and algorithms. Part 7 analyses disorders of carbohydrate metabo lism. Different types of diabetes are characterized as well as diseases consistent with fructose and lactose metabolic disorders, galactosemia, glycogenosis, and diseases asso ciated with disorders of disaccharide metabolism in the colon. The second volume of the book begins with part 8, which contains the chapters elucidating disorders of amino acid metabolism. Among those diseases the focus is done on hyperphenylalaninemia, hypertyrosinemia, disorders in the metabolism of histidine, proline, oxypro line and ornithine, lysine, and glycine. Part 9 summarizes the data about disorders of organ ic acid metabolism. There is information about alcap tonuria, disorders in propionate and methyl malonate metabolism, glutathione synthetase deficiency and disor ders of glycerol metabolism. Part 10 gives the characteristics of mitochondrial functions disorders. The chapters in part 11 are focused on the diseases associated with disorders of purine and pyrimidine metabolism. Xanthinuria, Lesch Nyhan disease, ade nine phosphoribosyl transferase and adenosine deami nase deficiency, and other pathologies are also character ized. Part 12 discusses lipid metabolism under normal conditions and in inherited pathology. Chapters of this part contain the description of blood plasma lipoprotein structure and metabolism, various types of familial lipoprotein lipase deficiencies, diseases caused by bile acids biosynthesis deficiency, and other diseases. Part 13 characterizes the diseases identified with dis orders of porphyrin metabolism. Among those the authors review disorders of heme biosynthesis and disor ders of bilirubin metabolism. Part 14 contains 3 chapters about disorders of metal metabolism and transport. Described are diseases caused by disorders of copper transport, inherited hemochro matosis, and sulfite oxidase and molybdenum cofactor deficiency. Part 15 includes the chapters concerning the diseases caused by disorders of peroxisome biogenesis, deficiency of a number of enzymes in these cellular organelles. X Linked adrenoleukodystrophy, Refsum disease and pri mary hyperoxaluria are also described. Volume III of the book includes the large part 16, which is dedicated to lysosomal diseases. Such disorders as mucopolysaccharidoses, type II glycogenosis, glyco proteinoses, glycolipidoses, and others are discussed in the 21st chapter. Parts 17 and 18 describe disorders in vitamin and hormone metabolism accordingly. Part 19 is about blood and homeostasis. Here are chapters about anticoagulating protein C, the disorders of fibrinogen and factor XIII metabolism, about hemo philia A and B, antithrombin deficiency, disorders in fib The Metabolic and Molecular Bases of Inherited Disease