Narrow your search
Listing 1 - 4 of 4
Sort by

Book
Clinical mitochondrial medicine
Authors: ---
ISBN: 1108584357 1108647928 1139192469 Year: 2018 Publisher: Cambridge : Cambridge University Press,

Loading...
Export citation

Choose an application

Bookmark

Abstract

Mitochondrial disorders are a highly diverse group of conditions that can affect almost every major system in the human body, often mimicking common disorders. This clinical variety often results in prolonged and often dangerous, diagnostic delays. This textbook provides a practical framework, to enable rapid identification, investigation, and treatment of mitochondrial disorders across the spectrum of clinical practice. Clinically relevant and comprehensive, this textbook employs a system- and case-based approach for practitioners of all levels. It focuses on major phenotypic features, syndromes and management relevant for clinical practice, within a broad overview of the field. This interactive book supports readers with knowledge distilled from over 20 internationally recognized, mitochondrial experts.


Book
Genetics and genomics in medicine
Authors: --- ---
ISBN: 9780815344803 Year: 2015 Publisher: New York, NY : Garland Science/Taylor & Francis Group,

Loading...
Export citation

Choose an application

Bookmark

Abstract

"Genetics and Genomics in Medicine is a new textbook written for undergraduate and graduate students, as well as medical researchers, which explains the science behind the uses of genetics and genomics in medicine today. It is not just about rare inherited and chromosomal disorders, but how genetics affects the whole spectrum of human health and disease. DNA technologies are explained, with emphasis on the modern techniques that have revolutionized the use of genetic information in medicine and are indicating the role of genetics in common complex diseases. The detailed, integrative coverage of genetic approaches to treatment and prevention includes pharmacogenomics and the prospects for personalized medicine. Cancers are essentially genetic diseases and are given a dedicated chapter that includes new insights from cancer genome sequencing. Clinical disorders are covered throughout and there are extensive end-of-chapter questions and problems"--Provided by publisher.


Book
Mitochondrial Diseases
Authors: --- ---
ISBN: 0128217618 0128217510 9780128217610 9780128217511 Year: 2023 Publisher: Amsterdam, Netherlands : Elsevier B.V.,

Loading...
Export citation

Choose an application

Bookmark

Abstract

Mitochondrial Diseases presents the most common clinical manifestations, providing an up-to-date summaries on the clinical presentations, diagnostic processes, genetic counseling and treatment options in mitochondrial diseases. Contents include specialist biochemical analyses and targeted molecular genetic testing, as well as first-line genome-wide sequencing to accelerate speed of diagnosis while avoiding time-consuming, expensive and invasive investigations. Establishing a genetic diagnosis allows patients with mitochondrial diseases to have reproductive options, all of which are covered within. This book is intended for neurologists to help them recognize and manage patients with mitochondrial diseases.


Book
Evaluation and treatment of myopathies
Authors: --- ---
ISBN: 0199330409 0199348863 0199873941 9780199873944 9780199873937 0199873933 9780199330409 9780199348862 Year: 2014 Publisher: Oxford : Oxford University Press,

Loading...
Export citation

Choose an application

Bookmark

Abstract

This new edition of Evaluation and Treatment of Myopathies is written for the clinician who sees patients with muscle disease, or the patient with complaints pain or weakness of muscle. Like the original, this new edition is divided in to 3 primary sections: Approach to the Patient with Muscle Disease Specific Myopathies, and General Strategies of Clinical Management provides practical guidance on eliciting key history and on how to demonstrate findings on examination. This new edition also provides guidance on the next steps in diagnosisas well as the latest information on pathogenesis, diagn

Listing 1 - 4 of 4
Sort by