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Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis.
- Source :
-
Journal of neurology [J Neurol] 2004 Jan; Vol. 251 (1), pp. 105-7. - Publication Year :
- 2004
- Subjects :
- Age of Onset
Alanine genetics
Bile Acids and Salts blood
Cholestanetriol 26-Monooxygenase
Cholestanol blood
Cholesterol blood
DNA Mutational Analysis
Diagnosis, Differential
Diagnostic Errors
Diarrhea complications
Family Health
Female
Humans
Magnetic Resonance Imaging methods
Middle Aged
Muscular Atrophy, Spinal genetics
Mutation
Proline genetics
Xanthomatosis, Cerebrotendinous blood
Xanthomatosis, Cerebrotendinous diagnosis
Xanthomatosis, Cerebrotendinous pathology
Heterozygote
Muscular Atrophy, Spinal diagnosis
Phenotype
Steroid Hydroxylases genetics
Xanthomatosis, Cerebrotendinous genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0340-5354
- Volume :
- 251
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Journal of neurology
- Publication Type :
- Report
- Accession number :
- 14999499
- Full Text :
- https://doi.org/10.1007/s00415-004-0221-x