Автор: Richard P. Lifton Название: Genetic Diseases of the Kidney, ISBN: 0124498515 ISBN-13(EAN): 9780124498518 Издательство: Elsevier Science Рейтинг: Цена: 13214 р. 16517.00-20% Наличие на складе: Есть (1 шт.) Описание: Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. Genetic Diseases of the Kidney offers expert insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease. Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic “disturbance” to the systemic appearance of disease.
Описание: This book looks at the role of proteases, which are enzymes that digest proteins, and the various roles that proteases play in the development of neurodegenerative diseases such as Alzheimer's disease, ALS, epilepsy, multiple sclerosis, as well as numerous other neuromuscular diseases.
Автор: Elles Rob Название: Molecular Diagnosis of Genetic Diseases ISBN: 0896039323 ISBN-13(EAN): 9780896039322 Издательство: Springer Рейтинг: Цена: 18479 р. Наличие на складе: Поставка под заказ.
Описание: This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
Описание: Provides an insight into the problems associated with metabolic diseases. This work is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and mitochondrial diseases, with an introductory outline. It also includes photographs, often showing extremely rare disorders, aiding easy diagnosis.
Автор: Fernandes Название: Inborn Metabolic Diseases ISBN: 3540287833 ISBN-13(EAN): 9783540287834 Издательство: Springer Рейтинг: Цена: 17897 р. Наличие на складе: Поставка под заказ.
Описание: Emphasises clinical presentation and treatment in acute and chronic situation. This book contains a chapter on Neonatal screening by tandem MS/MS and includes several groups of disorders. The first chapter presents the clinical approach to inherited metabolic disease using many algorithms and tables.
Автор: Dragani Название: Human Polygenic Diseases ISBN: 9057023369 ISBN-13(EAN): 9789057023361 Издательство: Informa Рейтинг: Цена: 10271 р. Наличие на складе: Нет в наличии.
Описание: Complex genetic factors are difficult to study in humans. This text aims to provide a concise view of the major experimental models of polygenic inheritance of predisposition to diseases. It emphasizes the use of models as tools for understanding the basis of the complex genetics of human disease.
Описание: Application of genomic, proteomic, and bioinformatics technologies to study of human genetics has made it possible for human genetic diseases to be studied on an unprecedented scale. This work provides coverage of a range of research topics in this area. It reviews a spectrum of approaches to human genetics research.
Описание: This book summarizes the current knowledge on the molecular bases for human inherited diseases associated with unstable mutations. Five chapters describe molecular mechanisms that destabilize normal regions of DNA and explain how repetitive elements cause such diseases. The book provides a balanced, objective account on all aspects and types of unstable mutations. The reader will find a solid background on how these mutations initiate unusual molecular pathways through DNA, RNA, and proteins. The book is designed to serve as a quick and comprehensive reference work for a broad audience including professors, researchers, students, and anyone with an interest in molecular medicine.
Описание: In recent years much enthusiasm and energy has been directed toward the development of human gene therapies, especially for inherited conditions and cancers. However, current gene transfer technology is limited in its transduction efficiency and ability to permanently and safely correct genomic defects. Thus the promise of gene therapy for these conditions is as yet unrealized. The progression of gene transfer technology will eventually surmount these limitations. Gene Therapy for Acute and Acquired Diseases includes selected examples of ongoing studies in molecular genetics that have the potential to evolve into human therapies for acute illnesses. These chapters are intended to highlight lesser known applications of gene therapy for acquired disorders. It is expected that human gene therapy trials for these conditions will be forthcoming in the near future, leading to previously unimaginable therapies. Thus, this first-ever book about gene therapy for acute and acquired diseases is intended to serve as a glimpse into the future.
Название: Primary immunodeficiency diseases ISBN: 354078537X ISBN-13(EAN): 9783540785378 Издательство: Springer Рейтинг: Цена: 13281 р. Наличие на складе: Невозможна поставка.
Описание: Primary immunodeficiency diseases (PID) are a group of disorders involving defects in one or more components of the immune system, and are characterized by an increased incidence of infections, autoimmunity, and malignancies. This book contains advances in the field.
Автор: Jarrah Ali Al-Tubaikh; Maximilian F. Reiser Название: Congenital Diseases and Syndromes ISBN: 3642001599 ISBN-13(EAN): 9783642001598 Издательство: Springer Рейтинг: Цена: 26450 р. Наличие на складе: Поставка под заказ.
Описание: This book is designed to serve the radiologist as an easy-to-use visual guide that illustrates the typical diagnostic radiological features of the most common
congenital diseases and syndromes. Chapters are organised according to body system, and focus on the CNS, the head and neck, the chest and heart, the abdomen and pelvis, and
the musculoskeletal system. In this book, a final chapter is devoted to phacomatoses.
Each syndrome or disease is illustrated by multiple images as well as by high-quality
digital medical illustrations depicting those radiological signs that are difficult to detect. The reader is thereby familiarised with the various congenital anomalies from the radiological point
of view. In addition, etiology, diagnostic criteria, and main symptoms are described, and potential differential diagnoses highlighted.
This book will be immensely useful for junior
radiologists, radiology students, and doctors in any specialty who are interested in congenital malformations and syndromes.
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