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Inherited metabolic disease in adults, 


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Название:  Inherited metabolic disease in adults
ISBN: 9780199972135
Издательство: Oxford Academ
Классификация:


ISBN-10: 0199972133
Обложка/Формат: Hardcover
Страницы: 648
Вес: 1.59 кг.
Дата издания: 18.08.2016
Серия: Oxford monographs on medical genetics
Язык: English
Размер: 28.19 x 21.59 x 3.05 cm
Читательская аудитория: Professional & vocational
Подзаголовок: A clinical guide
Ссылка на Издательство: Link
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Поставляется из: Англии
Описание: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever.

Inherited Cardiac Disease

Автор: Elliott Perry, Lambiase Pier D., Kumar Dhavendr
Название: Inherited Cardiac Disease
ISBN: 0199559686 ISBN-13(EAN): 9780199559688
Издательство: Oxford Academ
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Цена: 31040.00 T
Наличие на складе: Есть
Описание: Containing summaries of inherited cardiovascular disorders with a focus on aetiology, presentation and management, this handbook covers the fundamentals of molecular biology and genetic testing, and the detailed clinical information relevant to patient management.

Inherited Metabolic Diseases

Автор: Georg F. Hoffmann; Johannes Zschocke; William L. N
Название: Inherited Metabolic Diseases
ISBN: 3662570084 ISBN-13(EAN): 9783662570081
Издательство: Springer
Рейтинг:
Цена: 199390.00 T
Наличие на складе: Невозможна поставка.
Описание: This book focuses on clinical presentations that may be caused by inherited metabolic diseases. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.

Inherited Cardiac Disease

Автор: Elliott Perry, Lambiase Pier D., Kumar Dhavendra
Название: Inherited Cardiac Disease
ISBN: 0198829124 ISBN-13(EAN): 9780198829126
Издательство: Oxford Academ
Рейтинг:
Цена: 145610.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Fully updated to reflect advances in molecular genetic technologies and national guidelines on inherited cardiac diseases in families, this second edition provides a comprehensive summary of the aetiology, presentation, and management of genetic disorders of the cardiovascular system.

Atlas of inherited retinal diseases

Название: Atlas of inherited retinal diseases
ISBN: 3319950452 ISBN-13(EAN): 9783319950457
Издательство: Springer
Рейтинг:
Цена: 204970.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.

Inherited Neuromuscular Diseases

Автор: Carmen Espin?s; Vicente Felipo; Francesc Palau
Название: Inherited Neuromuscular Diseases
ISBN: 940073056X ISBN-13(EAN): 9789400730564
Издательство: Springer
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Цена: 191550.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: This reference on the state-of-the-art of neuromuscular diseases as a whole offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments.

Inherited Neuromuscular Diseases

Автор: Carmen Espin?s; Vicente Felipo; Francesc Palau
Название: Inherited Neuromuscular Diseases
ISBN: 9048128129 ISBN-13(EAN): 9789048128129
Издательство: Springer
Рейтинг:
Цена: 191560.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Presents the development of neuromuscular diseases as a whole, including muscular dystrophies, mitochondrial disorders, peripheral neuropathies, spinal muscular atrophy, motoneurone disease and Friedreich ataxia. This title offers a review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, and treatments.

Safety and Efficacy of Gene-Based Therapeutics for Inherited Disorders

Автор: Brunetti-Pierri Nicola
Название: Safety and Efficacy of Gene-Based Therapeutics for Inherited Disorders
ISBN: 3319851586 ISBN-13(EAN): 9783319851587
Издательство: Springer
Рейтинг:
Цена: 139750.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: In this book, leading international experts analyze state-of-the-art advances in gene transfer vectors for applications in inherited disorders and also examine the toxicity profiles of these methods.

Orthopaedic Problems in Inherited Skeletal Disorders

Автор: F. Horan; W.J.W. Sharrard; P. Beighton
Название: Orthopaedic Problems in Inherited Skeletal Disorders
ISBN: 1447113284 ISBN-13(EAN): 9781447113287
Издательство: Springer
Рейтинг:
Цена: 81050.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Frank Horan and Peter Beighton have aimed their admirable and concise monograph to help the orthopaedic surgeon-the one individual who is likely to be able to ameliorate the musculo-skeletal problems from which so many of the children and adults with these diseases suffer.

The A-Z Reference Book of Syndromes and Inherited Disorders

Автор: P A T R I C I A GILBERT
Название: The A-Z Reference Book of Syndromes and Inherited Disorders
ISBN: 0412641208 ISBN-13(EAN): 9780412641206
Издательство: Springer
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Цена: 81050.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: This reference book offers a practical guide for carers and those with a syndrome or inherited disorder. An extra 20 syndromes have been added to the text, bringing the total described to 90. The glossary has also been extended to include a greater number of more common medical terms.

Genetics and Inherited Conditions, 3 Volume Set

Название: Genetics and Inherited Conditions, 3 Volume Set
ISBN: 1682176037 ISBN-13(EAN): 9781682176030
Издательство: Mare Nostrum (Eurospan)
Рейтинг:
Цена: 330220.00 T
Наличие на складе: Невозможна поставка.
Описание: An A-Z encyclopedia offering nonspecialist information about 460 topics in genetics, from the science behind this important field to diseases that can be passed down among generations.The Printed ReferenceThree volumes, including 1,236 pages459 Essays, 239 New200 Photos & IllustrationsAppendixes, indexes and resource listingsOnline AccessFully supportedUnlimited users at your libraryFull access from home or dorm roomImmediate access via online registrationA simple, intuitive interfaceUser profile areas for students and patronsSophisticated search functionsComplete content, including appendixesFully illustratedSalem Health: Genetics and Inherited Conditions, Second Edition alphabetically arranges 459 essays on diseases, biology, techniques, methodologies, genetic engineering, biotechnology, ethics, and social issues. Written for nonspecialists by professors and professional medical writers, this comprehensive reference publication will interest health-care consumers, premedical students, public library patrons, and librarians building scientific collections.Designed for the general reader, Salem Health: Genetics and Inherited Conditions, Second Edition is a revised and expanded version of Salem's award-winning Encyclopedia of Genetics, published in 2004. It adds 237 topics new to the encyclopedia, many of them diseases and conditions that are known to be genetic in origin to some degree. In addition, two entries from the last edition were replaced and 79 were heavily revised by experts to bring them up to date. All other previously published entries were reedited and their bibliographies updated with the latest sources. All appendixes were updated by science experts.Essays vary in length from two to six pages. All entries begin with a line defining that topic's category. Essays on diseases and inherited conditions are divided into the sections ""Definition,"" ""Risk Factors,"" ""Etiology and Genetics of This Disorder,"" ""Symptoms,"" ""Screening and Diagnosis,"" ""Treatment and Therapy,"" and ""Prevention and Outcomes."" All other types of essays begin with a statement of significance, provide a list of key terms and their definitions, and feature topical subheadings to guide readers through the text. All entries end with a byline, including the author's credentials, and a list of sources for further information from both print and online resources, many of them annotated. The encyclopedia also includes sidebars and photos that expand on key aspects of the topic under discussion.All three volumes offer a ""Complete Table of Contents"" and category index that divides the contents of the set, both for easy identification of desired topics. In addition, six appendixes at the end of volume 3 offer readers a ""Biographical Dictionary of Geneticists,"" a list of ""Nobel Prizes for Discoveries in Genetics,"" a ""Time Line of Major Developments in Genetics"" from prehistoric times to the present, a ""Glossary"" of scientific terms, a general ""Bibliography"" arranged by category, an annotated listing of relevant ""Web Sites,""a personages index of important figures in the field, and a comprehensive subject index.

Safety and Efficacy of Gene-Based Therapeutics for Inherited Disorders

Автор: Nicola Brunetti-Pierri
Название: Safety and Efficacy of Gene-Based Therapeutics for Inherited Disorders
ISBN: 3319534556 ISBN-13(EAN): 9783319534558
Издательство: Springer
Рейтинг:
Цена: 149060.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: In this book, leading international experts analyze state-of-the-art advances in gene transfer vectors for applications in inherited disorders and also examine the toxicity profiles of these methods.

Inherited Disorders of the Thyroid System

Автор: Medeiros-Neto, Geraldo , Stanbury, John B.
Название: Inherited Disorders of the Thyroid System
ISBN: 0367225298 ISBN-13(EAN): 9780367225292
Издательство: Taylor&Francis
Рейтинг:
Цена: 107190.00 T
Наличие на складе: Нет в наличии.
Описание: A two-act play based on the legendary Battle of Talikota in 1565 and the circumstances leading up to it. Central to the narrative is the story of the power-hungry `Aliya` Rama Raya, the successful son-in-law of the Vijayanagar emperor Krishna Deva Raya, his overarching ways, and his twisted attempts at political alliances and administrative strategies.


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