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Jingdong book

临床遗传代谢病

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临床遗传代谢病

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《临床遗传代谢病》为国内第一部遗传代谢病方面的专著。第一章为遗传代谢病总论,重点阐述了遗传代谢病的基础和概念、遗传代谢病的临床表现、实验室检查、诊断、治疗、遗传咨询、产前诊断、新生儿遗传代谢病筛查等。第二章至第十三章按遗传代谢病的小分子代谢物异常或者细胞器病变部位分类的疾病篇章,根据疾病的概念、流行病学、发病机制、分子遗传、临床诊治、预防等结构进行了介绍,特别体现了新技术在临床诊治中的应用、疾病预防的策略。附录部分为遗传代谢病的临床和实验室检查,以方便临床医师查询。
《临床遗传代谢病》可供从事临床儿科、新生儿科、产科和临床遗传专业的医师和实验室技术人员参考。随着成人晚发性遗传代谢病的发现以及可治性遗传性代谢病患儿存活率的提高,《临床遗传代谢病》对成人专科医师也有参考价值。
Catalogue

第一章 遗传代谢病总论
第一节 遗传代谢病概念和分类
第二节 遗传代谢病的发病机制
第三节 遗传代谢病的临床表现
第四节 遗传代谢病的实验室检查
第五节 遗传代谢病的诊断
第六节 遗传咨询
第七节 遗传病的产前诊断
第八节 新生儿遗传代谢病筛查
第九节 遗传代谢病的急诊处理
第十节 遗传代谢病的治疗

第二章 氨基酸代谢病
第一节 苯丙氨酸羟化酶缺乏症
第二节 四氢生物蝶呤缺乏症
第三节 枫糖尿病
第四节 酪氨酸血症
第五节 同型半胱氨酸血症
第六节 高甲硫氨酸血症
第七节 非酮性高甘氨酸血症
第八节 高组氨酸血症
第九节 高脯氨酸血症
第十节 羟脯氨酸血症
第十一节 尿黑酸尿症
第十二节 白化病

第三章 尿素循环障碍
第一节 鸟氨酸氨甲酰转移酶缺乏症
第二节 氨甲酰磷酸合成酶1缺乏症
第三节 瓜氨酸血症Ⅰ型
第四节 希特林缺乏症
第五节 精氨酰琥珀酸尿症
第六节 精氨酸血症
第七节 高鸟氨酸血症
第八节 高鸟氨酸血症-高氨血症-同型瓜氨酸尿症

第四章 有机酸代谢病
第一节 甲基丙二酸血症
第二节 丙酸血症
第三节 异戊酸血症
第四节 戊二酸血症I型
第五节 3-甲基巴豆酰辅酶A羧化酶缺乏症
第六节 3-甲基戊二酰辅酶A水解酶缺乏症
第七节 3-羟基-3-甲基-戊二酰辅酶A裂解酶缺乏症
第八节 生物素酶缺乏症
第九节 全羧化酶合成酶缺乏症
第十节 3-羟基异丁酸尿症
第十一节 2-羟戊二酸尿症
第十二节 4-羟丁酸尿症
第十三节 丙二酸血症

第五章 脂肪酸p氧化障碍
第一节 原发性肉碱缺乏症
第二节 肉碱棕榈酰转移酶I缺乏症
第三节 肉碱棕榈酰转移酶Ⅱ缺乏症
第四节 肉碱酰基肉碱移位酶缺乏症
第五节 短链酰基辅酶A脱氢酶缺乏症
第六节 短链3-羟酰基辅酶A脱氢酶缺乏症
第七节 中链酰基辅酶A脱氢酶缺乏症
第八节 极长链酰基辅酶A脱氢酶缺乏症
第九节 长链3-羟酰基辅酶A脱氢酶缺乏症
第十节 多种酰基辅酶A脱氢酶缺乏症
第十一节 β-酮硫解酶缺乏症
第十二节 三功能蛋白缺乏症

第六章 碳水化合物代谢病
第一节 糖原累积病Ⅰ型
第二节 糖原累积病Ⅱ型
第三节 糖原累积病Ⅲ型
第四节 糖原累积病Ⅳ型
第五节 糖原累积病Ⅴ型
第六节 糖原累积病Ⅵ型
第七节 糖原累积病Ⅶ型
第八节 糖原累积病Ⅸ型
第九节 糖原累积病O型
第十节 半乳糖血症
第十一节 遗传性果糖不耐受症
第十二节 先天性乳糖酶缺乏症
第十三节 先天性蔗糖酶一异麦芽糖酶缺乏症
……

第七章 线粒体病
第八章 溶酶体贮积症
第九章 过氧化物酶体病
第十章 代谢性骨病
第十一章 类固醇代谢病
第十二章 遗传性脂代谢异常
第十三章 其他遗传代谢病

附录 遗传代谢病的临床和实验室检查
中英文名词对照索引

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Brand Jingdong book
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