Bokus
Patrick F. Chinnery, Michael J. Keogh, Jelle van den Ameele, Rita Horvath - Clinical Mitochondrial Medicine, Häftad

Häftad, Engelska, 2027

Clinical Mitochondrial Medicine

Av Patrick F. Chinnery, Michael J. Keogh, Jelle van den Ameele, Rita Horvath

789 kr

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Beskrivning
Mitochondrial disorders are highly diverse conditions that can affect nearly every major bodily system, often imitating more common diseases, leading to frequent and sometimes dangerous diagnostic delays. This textbook offers a clear, practical guide to how mitochondrial disorders present, how they are diagnosed, and how they are managed, keeping scientific detail to the essential information needed for clinical practice. Designed for non-specialist doctors and trainees, it also serves as a valuable reference for scientists seeking clinical context and for families wanting to better understand the condition. Fully revised to reflect recent advances in clinical features, genetics, diagnostics, and treatment, this new edition includes chapters for primary care physicians and on the vital role of advocacy groups. Drawing on insights from over 20 international experts, it provides a practical, system- and case-based framework for use across all clinical settings.
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Patrick F. Chinnery FRS FMedSci is Professor of Neurology at the University of Cambridge and Honorary Consultant Neurologist at Cambridge University Hospitals NHS Trust (Addenbooke's Hospital). An active clinician, he has looked after patients and families affected by mitochondrial disease for over thirty years. He runs a clinical and laboratory research group focussed on understanding the mechanisms of mitochondrial diseases and developing new treatments. Dr Michael J. Keogh is an NHIP Senior Clinical Fellow and Honorary Consultant Neurologist in Newcastle. He runs a neurogenetic clinic where he looks after patients with a variety of genetically mediated neurological disorders, and a research laboratory that aims to understand how genetic variation predisposes to neurological disease. Dr Jelle van den Ameele is a Wellcome Clinical Fellow and Honorary Consultant Neurologist at the University of Cambridge and Cambridge University Hospitals NHS Trust. He runs a fundamental research group at the MRC Mitochondrial Biology Unit, studying molecular mechanisms of tissue specificity in mitochondrial disease, and has a clinical research interest in mitochondrial disease gene therapies. Professor Rita Horvath MD, PhD, FMedSci is Professor of Neurogenetics at the University of Cambridge and Honorary Consultant Neurologist at Cambridge University Hospitals. She has twenty-five years of experience in diagnosing and treating patients with mitochondrial disease. Her group combines genomics, fundamental experimental work and clinical studies to find effective therapies.

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