图书简介
Scientific progress has been rapid in lysosomal biology during the last six decades. Its application to human disease is nothing less than spectacular. In no other group of disorders has knowledge and clinical utility progressed so speedily. Recall that the organelle was described in just 1955. Since then, the biochemical alterations and storage materials were described, the enzyme deficiencies discovered, the gene coding of these glycoproteins cloned and thousands of mutations defined. These advances have resulted in highly improved diagnosis for more than 50 diseases. For five diseases, including the most common lysosomal storage disorder, molecular therapy is a reality, extremely effective and very safe. This higher plateau of medical approaches to human disease is something to which all translational scientists aspire and only a few actually witness. The relief of pain and suffering is a tribute to the ideas and work of many dedicated investigators. Much of that work is presented in this text. Despite our ability to treat some of these diseases through enzyme replacement therapy (ERT) and, accurately define different diseases that look alike, there is much to be learned about lysosomal disease. With each step up the barrier to knowledge, a new point of view is attained, a fresh perspective. Much is seen more clearly and many “allegories of the cave” are dispelled forever. Yet, our new view demands a new vision drawing us to find better definitions of what we see. This is how it has been with lysosomal diseases.
From Lysosomes to Storage Diseases and Back: A Personal Reminiscence.- Lysosomal Biogenesis and Disease.- The Concept of Treatment in Lysosomal Storage Diseases.- Complex Lipid Catabolism.- Retroviral Vectors for Gene Therapy.- Adenovirus in Gene Therapy.- Setting Back the Clock: Adenoviral-Mediated Gene Therapy for Lysosomal Storage Disorders.- Adeno-Associated Viral-Mediated Gene Therapy of Lysosomal Storage Disorders.- Herpes Simplex Virus Vectors for Gene Therapy of Lysosomal Storage Disorders.- Gene Therapy of Lysosomal Storage Disorders by Lentiviral Vectors.- Substrate Reduction Therapy.- Newborn Screening for Lysosomal Storage Disorders.- Genetic Counseling for Lysosomal Storage Diseases.- Neural Stem Cell Therapy in Lysosomal Storage Disorders.- The GM1 Gangliosidoses.- The GM2 Gangliosidoses.- Acid Sphingomyelinase-Deficient Niemann–Pick Disease.- Krabbe Disease (Globoid Cell Leukodystrophy).- Metachromatic Leukodystrophy.- Fabry Disease.- Gaucher Disease: Review and Perspectives on Treatment.- Therapeutic Goals in the Treatment of Gaucher Disease.- The Neuronal Ceroid Lipofuscinoses: Clinical Features and Molecular Basis of Disease.- Mucopolysaccharidosis I.- Mucopolysaccharidosis II (Hunter Syndrome).- Sanfilippo Syndrome: Clinical Genetic Diagnosis and Therapies.- Mucopolysaccharidosis IV (Morquio Syndrome).- Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome).- Mucopolysaccharidosis Type VII (Sly Disease): Clinical, Genetic Diagnosis and Therapies.- Pompe Disease-Glycogenosis Type II: Acid Maltase Deficiency.- Lysosomal Free Sialic Acid Storage Disorders: Salla Disease and ISSD.- Cystinosis.- I-Cell Disease.
Trade Policy 买家须知
- 关于产品:
- ● 正版保障:本网站隶属于中国国际图书贸易集团公司,确保所有图书都是100%正版。
- ● 环保纸张:进口图书大多使用的都是环保轻型张,颜色偏黄,重量比较轻。
- ● 毛边版:即书翻页的地方,故意做成了参差不齐的样子,一般为精装版,更具收藏价值。
关于退换货:
- 由于预订产品的特殊性,采购订单正式发订后,买方不得无故取消全部或部分产品的订购。
- 由于进口图书的特殊性,发生以下情况的,请直接拒收货物,由快递返回:
- ● 外包装破损/发错货/少发货/图书外观破损/图书配件不全(例如:光盘等)
并请在工作日通过电话400-008-1110联系我们。
- 签收后,如发生以下情况,请在签收后的5个工作日内联系客服办理退换货:
- ● 缺页/错页/错印/脱线
关于发货时间:
- 一般情况下:
- ●【现货】 下单后48小时内由北京(库房)发出快递。
- ●【预订】【预售】下单后国外发货,到货时间预计5-8周左右,店铺默认中通快递,如需顺丰快递邮费到付。
- ● 需要开具发票的客户,发货时间可能在上述基础上再延后1-2个工作日(紧急发票需求,请联系010-68433105/3213);
- ● 如遇其他特殊原因,对发货时间有影响的,我们会第一时间在网站公告,敬请留意。
关于到货时间:
- 由于进口图书入境入库后,都是委托第三方快递发货,所以我们只能保证在规定时间内发出,但无法为您保证确切的到货时间。
- ● 主要城市一般2-4天
- ● 偏远地区一般4-7天
关于接听咨询电话的时间:
- 010-68433105/3213正常接听咨询电话的时间为:周一至周五上午8:30~下午5:00,周六、日及法定节假日休息,将无法接听来电,敬请谅解。
- 其它时间您也可以通过邮件联系我们:customer@readgo.cn,工作日会优先处理。
关于快递:
- ● 已付款订单:主要由中通、宅急送负责派送,订单进度查询请拨打010-68433105/3213。
本书暂无推荐
本书暂无推荐