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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.
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"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.
Human genetics --- Molecular biology --- Génomique --- Maladies héréditaires --- Médecine personnalisée --- Genetic Phenomena. --- Genomics. --- Genetic Diseases, Inborn --- Precision Medicine. --- Thérapeutique --- therapy --- therapy. --- Génomique. --- Médecine personnalisée. --- Thérapeutique. --- Genetic Phenomena --- Genomics --- Precision Medicine
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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.
Mitochondrial pathology. --- Mitochondria --- Mitochondrial disorders --- Metabolism --- Pathology, Cellular --- Diseases --- Pathology --- Disorders --- Mitochondrial Diseases
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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
Muscles --- Muscle --- Musculature --- Myodynamics --- Myology --- Musculoskeletal system --- Tissues --- Diseases --- Treament. --- Diagnosis. --- Muscular Diseases --- Neuromuscular Diseases. --- Maladies neuromusculaires. --- diagnosis. --- therapy. --- Maladies --- Diagnostic. --- Thérapeutique. --- Neuromuscular Diseases --- diagnosis --- therapy
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