作者: Adeline Vanderver , Andrea L. Gropman
DOI: 10.1007/978-1-59259-888-5_22
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摘要: Advances in neuroimaging, particularly magnetic resonance imaging (MRI), have made possible the study of normal and abnormal brain myelination. Although many disorders present with nonspecific MRI findings, more detailed analysis newer modalities such as diffusion tensor (DTI), spectroscopy (MRS), magnetization transfer (MTI), allow investigation white matter microstructure, abnormalities that may precede evade detection on conventional MRI. The purpose this chapter is to discuss utility neuroimaging differentiation mitochondrial other inborn errors metabolism. first section will used their application diagnosis metabolic disease. second focus some characteristic which visualized neuroimaging. not meant be an exhaustive summary, several key clinical features presented. Finally, a table well examples serve solidify between illustrate best investigate etiology and, cases, follow disease progression response therapies.