Titlebook: Diagnosis and Management of Mitochondrial Disorders; Michelangelo Mancuso,Thomas Klopstock Book 2019 Springer Nature Switzerland AG 2019 M

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Diagnostic Approach to Mitochondrial Diseases,. Over the past years, the development of novel diagnostic techniques and our growing understanding of mitochondrial pathophysiology have altered the clinical diagnostic approach in suspected mitochondrial cases. With the increased availability of next-generation sequencing, including targeted panel

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,Neuroimaging Findings in Primary?Mitochondrial Cytopathies,ergy (ATP) production, resulting in peculiar brain imaging findings on MRI. The growing knowledge regarding molecular, biochemical, and genetic defects associated with mitochondrial cytopathies corresponds to an increasing number of clinical and neuroimaging phenotypes. This chapter describes the ma

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