Niemann-Pick Type C Disease
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
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A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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Niemann-Pick Disease Type C
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Pes Cavus and Neuropathy
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
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