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Mitochondrial Diseases (Volume 194) (Handbook of Clinical Neurology, Volume 194) (Original PDF from Publisher)

Mitochondrial Diseases: A Comprehensive Guide for Neurologists

Edited by Rita Horvath, Michio Hirano, and Patrick F. Chinnery, Mitochondrial Diseases, Volume 194 offers a cutting-edge resource for neurologists to diagnose and manage mitochondrial diseases. This valuable reference provides an up-to-date summary of the clinical manifestations, diagnostic processes, genetic counseling, and treatment options for patients with these complex disorders.

Clinical Presentations and Diagnostic Approaches

The book presents a comprehensive overview of the clinical presentations of mitochondrial diseases, including the latest specialist biochemical analyses and targeted molecular genetic testing. Additionally, the role of first-line genome-wide sequencing is discussed, highlighting its potential to accelerate diagnosis and reduce the need for time-consuming and invasive investigations.

Genetic Diagnosis and Reproductive Options

A crucial aspect of managing mitochondrial diseases is establishing a genetic diagnosis, which enables patients to explore reproductive options. This volume covers the various options available, providing neurologists with the necessary knowledge to counsel their patients effectively.

Book Details

  • Publisher: Elsevier
  • Edition: 1st edition
  • Publication Date: June 30, 2023
  • Language: English
  • Hardcover: 302 pages
  • ISBN-10: 0128217510
  • ISBN-13: 978-0128217511

This authoritative resource is an essential tool for neurologists seeking to recognize and manage patients with mitochondrial diseases effectively.

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