A case of sudden death of a 52-year-old mentally retarded Caucasian male is described
where the rectal temperature was 43.4° C 3 h postmortem. The autopsy revealed …

Cerebrotendinous xanthomatosis (CTX) is a rare recessive disorder believed to be
exclusively caused by mutations in the CYP27A1 gene coding for the enzyme sterol 27 …

Rystedt E, Olin M, Seyama Y, Buchmann M, Berstad A, Eggertsen G, Björkhem I (Karolinska
Institutet, Stockholm, Sweden; OchanomizuUniversity, Tokyo, Japan; Medisinsk avdeling …

Background Cerebrotendinous xanthomatosis (CTX) is a rare but treatable
neurodegenerative disorder caused by 27-sterol hydroxylase (CYP27) deficiency. Objective …

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease. It
has been reported in more than 200 people worldwide. This review covers the …

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder
caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme …

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder
due to a deficiency of the mitochondrial enzyme sterol 27-hydroxylase (CYP 27) with …

We examined the phenotypic characteristics, molecular genetics and optimal
pharmacological treatment of cerebrotendinous xanthomatosis (CTX) in an English family …

Cerebrotendinous xanthomatosis (CTX), a rare familial lipid metabolic disease inherited via
an autosomal recessive trait, is caused by mutations of the sterol 27-hydroxylase gene …

BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive
inherited metabolic disorder. It results from a deficiency of sterol 27-hydroxylase (CYP27A1) …