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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Niemann-Pick Type C Disease
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A 26-Year-OldWoman with Headache and Eosinophilia
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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A 59-Year-Old Man with Acute-Onset Encephalopathy and Aphasia
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Ribbon-Like Cortical Calcifications in Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type
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A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
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A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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Clinicopathological Conference, Chronic Candida Albicans Meningitis
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017
Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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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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Clinical Study of Nine Patients with ReNU Syndrome
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