Add to ORKGCerebrotendinous xanthomatosis is a rare genetic disorder characterized by a decrease in activity of the hepatic sterol 27-hydroxylase involved in the cholesterol metabolism and excretion. Consequently, lipid (cholesterol/ cholestanol) deposition is observed in different regions of the body, especially tendons, central nervous system and eye lens. The present report describes the cases of two sisters affected by this disease, highlighting the main imaging findings
Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investi...
We examined the phenotypic characteristics, lowest plasma sterol and triglyceride concentrations and...
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported...
Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lip...
Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lip...
Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lip...
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder due to a d...
Cerebrotendinous xanthomatosis is a rare, autosomal recessive, inherited lipid storage disease chara...
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive inborn error of bile acids synthesis ...
Cerebrotendinous Xanthomatosis(CTX) is an uncommon autosomal recessive disorder in which there is ac...
Cerebrotendinous xanthomatosis (CTX) is a treatable, autosomal recessive, lipid storage disorder cha...
Cerebrotendinous xanthomatosis is a rare metabolic disease of autosomal recessive inheritance. Clini...
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defecti...
Cerebrotendinous xanthomatosis (CTX) is an autosomal-recessive disorder of lipid storage caused by m...
Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive defect of the alternative pathway of ...
Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investi...
We examined the phenotypic characteristics, lowest plasma sterol and triglyceride concentrations and...
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported...
Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lip...
Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lip...
Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lip...
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder due to a d...
Cerebrotendinous xanthomatosis is a rare, autosomal recessive, inherited lipid storage disease chara...
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive inborn error of bile acids synthesis ...
Cerebrotendinous Xanthomatosis(CTX) is an uncommon autosomal recessive disorder in which there is ac...
Cerebrotendinous xanthomatosis (CTX) is a treatable, autosomal recessive, lipid storage disorder cha...
Cerebrotendinous xanthomatosis is a rare metabolic disease of autosomal recessive inheritance. Clini...
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defecti...
Cerebrotendinous xanthomatosis (CTX) is an autosomal-recessive disorder of lipid storage caused by m...
Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive defect of the alternative pathway of ...
Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investi...
We examined the phenotypic characteristics, lowest plasma sterol and triglyceride concentrations and...
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported...
