No abstract available
MeSH terms
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Adult
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Age Factors
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Brain / pathology
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Cataract / genetics*
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Cerebellar Ataxia / etiology
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Cerebellar Diseases / genetics*
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Cerebellar Diseases / pathology
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Cerebellum / pathology
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Child
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Cholestanes / blood
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Cholestanes / metabolism*
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Female
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Follow-Up Studies
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Humans
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Intellectual Disability / etiology
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Lipid Metabolism, Inborn Errors* / pathology
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Spinal Cord / pathology
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Spinal Cord Diseases / etiology
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Xanthomatosis / etiology
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Xanthomatosis / genetics*
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Xanthomatosis / pathology