No abstract available
Publication types
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Case Reports
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Comparative Study
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Letter
MeSH terms
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Age of Onset
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Alanine / genetics
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Bile Acids and Salts / blood
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Cholestanetriol 26-Monooxygenase
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Cholestanol / blood
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Cholesterol / blood
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DNA Mutational Analysis
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Diagnosis, Differential
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Diagnostic Errors
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Diarrhea / complications
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Family Health
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Female
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Heterozygote*
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Humans
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Magnetic Resonance Imaging / methods
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Middle Aged
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Muscular Atrophy, Spinal / diagnosis*
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Muscular Atrophy, Spinal / genetics
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Mutation
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Phenotype*
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Proline / genetics
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Steroid Hydroxylases / genetics*
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Xanthomatosis, Cerebrotendinous / blood
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Xanthomatosis, Cerebrotendinous / diagnosis
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Xanthomatosis, Cerebrotendinous / genetics*
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Xanthomatosis, Cerebrotendinous / pathology
Substances
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Bile Acids and Salts
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Cholestanol
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Cholesterol
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Proline
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Steroid Hydroxylases
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CYP27A1 protein, human
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Cholestanetriol 26-Monooxygenase
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Alanine