Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism caused by
recessive variants in the cytochrome P450 CYP27A1 gene. CTX is said to manifest with …

Congenital metabolic disorders are consequence of defects involving single genes that
code for enzymes. Blocking metabolic pathways, the defect leads to the shortage of …

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid
synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial …

Background Classic cerebrotendinous xanthomatosis (CTX; OMIM# 213700) manifests with
chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms. It is due …

Tendinous xanthomas are usually a sign of genetic dyslipidemias and are said to be
pathognomonic for familial hypercholesterolemia. However, the differential diagnosis must …

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

Cerebrotendinous Xanthomatosis (CTX) is a lipid storage disease caused by recessively
inherited pathogenic variants in CYP27A1 (OMIM 213700). The classic clinical presentation …

Lysosomal storage disorders are a diverse group of complex-molecule disorders
characterized by the accumulation of undegraded or partially substrate (s) within lysosomes …

Xantomatosis cerebrotendinosa sin xantomas tendíneos. Caso clínico SciELO - Scientific
Electronic Library Online vol.147 número5 Riesgo de contagio de sarampion para un viajero …

Background: Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disease
caused by mutations in the CYP27A1 gene resulting in a decreased synthesis of bile acids …