No abstract available
Publication types
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Case Reports
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Comment
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Letter
MeSH terms
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Adult
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Brain / pathology
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Chenodeoxycholic Acid / therapeutic use*
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Cholestanol / blood
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Cholesterol / blood
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Chromosome Aberrations
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Diagnosis, Differential
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Female
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Follow-Up Studies
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Genes, Recessive
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Humans
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Magnetic Resonance Imaging
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Male
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Middle Aged
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Neurologic Examination
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Steroid Hydroxylases / deficiency
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Treatment Outcome
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Triglycerides / blood
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Xanthomatosis, Cerebrotendinous / diagnosis
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Xanthomatosis, Cerebrotendinous / drug therapy*
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Xanthomatosis, Cerebrotendinous / genetics
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Xanthomatosis, Cerebrotendinous / mortality
Substances
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Triglycerides
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Chenodeoxycholic Acid
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Cholestanol
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Cholesterol
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Steroid Hydroxylases