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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, diagnosis and treatment, in an integrated manner, so as to give trainees, practicing clinicians and others who see neuromuscular disease, perspective on how to evaluate and care for patients. New and revised tables, figures and references are selected and organized to present information of clinical importance to provide the most up-to-date resource on the myopathies.
Mitochondrial Diseases, Volume 194 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 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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