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Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings
Gonçalves, FabrÃcio Guimarães Pinheiro, César Augusto Alves, Ferreira Peterson, James Viaene, Angela N. Teixeira, Sara Reis MartÃn-Saavedra, Juan Sebastián Andronikou, Savvas Goldstein, Amy
Gonçalves, FabrÃcio Guimarães
Pinheiro, César Augusto
Alves, Ferreira
Peterson, James
Viaene, Angela N.
Teixeira, Sara Reis
MartÃn-Saavedra, Juan Sebastián
Andronikou, Savvas
Goldstein, Amy
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Journal article
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2020-11-02
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Nursing
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https://doi.org/10.1148/rg.2020200052
Abstract
Primary mitochondrial disorders (PMDs) constitute the most common cause of inborn errors of metabolism in children, and they frequently affect the central nervous system. Neuroimaging findings of PMDs are variable, ranging from unremarkable and nonspecific to florid and highly suggestive. An overview of PMDs, including a synopsis of the basic genetic concepts, main clinical symptoms, and neuropathologic features, is presented. In addition, eight of the most common PMDs that have a characteristic imaging phenotype in children are reviewed in detail.
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FabrÃcio Guimarães Gonçalves, César Augusto Pinheiro Ferreira Alves, Beth Heuer, James Peterson, Angela N. Viaene, Sara Reis Teixeira, Juan Sebastián MartÃn-Saavedra, Savvas Andronikou, Amy Goldstein, and Arastoo Vossough. Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings. RadioGraphics 2020 40:7, 2042-2067
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Radiological Society of North America
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RadioGraphics, Vol. 40, No. 7
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