A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene
Sign Up to like & getrecommendations! Published in 2020 at "Internal Medicine"
DOI: 10.2169/internalmedicine.5037-20
Abstract: A 61-year-old Japanese man with the pure spinal form of cerebrotendinous xanthomatosis developed dysesthesia of the lower limbs and gait disturbance at 57 years of age. At 61 years old, he was unable to walk… read more here.
Keywords: pure spinal; spinal form; cyp27a1 gene; form cerebrotendinous ... See more keywords
Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy
Sign Up to like & getrecommendations! Published in 2023 at "Biomedicines"
DOI: 10.3390/biomedicines11051430
Abstract: Cerebrotendinous xanthomatosis (CTX) is a genetic disorder of the cholesterol metabolic pathway, most often associated with variants in the CYP27A1 gene. The dysregulation of cholesterol metabolism results in the accumulation of metabolites such as cholestanol,… read more here.
Keywords: cholesterol; cyp27a1 gene; disorder; chenodeoxycholic acid ... See more keywords
Relationship between rs4674344 CYP27A1 gene polymorphism and coronary artery disease in Polish population.
Sign Up to like & getrecommendations! Published in 2019 at "Kardiologia polska"
DOI: 10.33963/kp.15071
Abstract: Methods Patients We studied 445 white pa‐ tients divided into 2 groups. The first group in‐ cluded 220 patients (59 women and 161 men) with angiographically confirmed premature CAD. The second group comprised 225 blood… read more here.
Keywords: cardiology; cyp27a1; cad; blood ... See more keywords