Niemann-Pick Type C Disease
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A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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