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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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