Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.

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Article

Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.

Clinical and investigative medicine. Medecine clinique et experimentale - 1 Feb 2004

Moghadasian Mohammed H

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease. It has been reported in more than 200 people worldwide. This review covers the epidemiologic, biochemical and molecular characteristics of the disease, its clinical symptoms and treatment. A search of MEDLINE, using the keywords cerebrotendinous xanthomatosis, brain xanthoma, tendon xanthoma, cholestanol, cholesterol and bile...

Topics

Bile Acids and Salts
Cataract
Cholestanetriol 26-Monooxygenase
Cholestanol
Cholesterol
Codon
Databases as Topic
Diagnosis, Differential
Genotype
Humans
Liver
MEDLINE
Mutation
Nervous System Diseases
Steroid Hydroxylases
Xanthomatosis, Cerebrotendinous

Source

Open in PubMed

Identifiers

PMID: 15061585

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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