Results 11 to 20 of about 7,684 (214)
Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings
JIMD Reports, 2021 Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase.
Adam J. Guenzel +3 more
doaj +2 more sources
Frontiers in Pediatrics, 2020 Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation of toxic metabolites in various organs, particularly in brain and tendons.
Irene Degrassi +7 more
doaj +2 more sources
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis
Orphanet Journal of Rare Diseases, 2019 Background Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have
Qing-Qing Tao +5 more
doaj +2 more sources
Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report [PDF]
Archives of Endocrinology and MetabolismSitosterolemia is a rare genetic lipid disorder caused by mutations in the ABCG5/ABCG8, genes. It is characterized by plasmatic plant sterols accumulation, formation of tendon and tuberous xanthomas and early onset coronary artery disease.
Felipe Augusto Azevedo Leão +3 more
doaj +2 more sources
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis
Orphanet Journal of Rare Diseases, 2023 Background Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease characterized by disruption of bile acid synthesis due to inactivation of the CYP27A1 gene. Treatment is available in the form of bile acid replacement.
T. Pramparo +3 more
semanticscholar +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Cerebrotendinous xanthomatosis (CTX) is a rare, chronic, progressive, neurodegenerative disorder requiring life-long care. Patients with CTX often experience a diagnostic delay.
B. Stelten +13 more
semanticscholar +1 more source
Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity
Clinical Case Reports, 2023 Familial hypercholesterolemia (FH) is a rare but life‐threatening disorder. Skin manifestations can be its only manifestation. We present a case of a fifteen‐year‐old female child, with multiple eruptive xanthomas, xanthomas anarcus, and a deranged lipid
Amal Chamli +4 more
doaj +1 more source
Journal of atherosclerosis and thrombosis, 2021 Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder caused by mutations in the CYP27A1 gene, which encodes the mitochondrial enzyme sterol 27-hydroxylase. Decreased sterol 27-hydroxylase activity results in impaired bile
Shingo Koyama +6 more
semanticscholar +1 more source
Neurology, 2022 Objectives To describe long-term follow-up brain MRI findings in patients with cerebrotendinous xanthomatosis (CTX) treated with chenodeoxycholic acid (CDCA).
B. Stelten +5 more
semanticscholar +1 more source
A clinical case of secondary xanthomatosis in a patient with biliary cirrhosis
Лечащий Врач, 2021 The article describes the clinical manifestations of secondary xanthomatosis in a 46-year-old patient with primary biliary cirrhosis who was consulted by a dermatovenerologist.
N. V. Zilberberg +7 more
doaj +1 more source