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Journal Article
Review
Neuroimaging Findings in Lysosomal Disorders: 2018 Update.
Topics in Magnetic Resonance Imaging : TMRI 2018 August
Lysosomal storage disorders are a heterogeneous group of genetic diseases characterized by defective function in one of the lysosomal enzymes. In this review paper, we describe neuroradiological findings and clinical characteristics of neuronopathic lysosomal disorders with a focus on differential diagnosis. New insights regarding pathogenesis and therapeutic perspectives are also briefly discussed.
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