Results 151 to 160 of about 7,684 (214)

A rare case of xanthoma regression with thyroxine replacement in a young girl with overt hypothyroidism.

J Postgrad Med
Agrawal K, Kumar S, Singh SK, Khanuja M.
europepmc   +1 more source

Pharmacokinetic Cross-Over Study of Pharmacy-Compounded Chenodeoxycholic Acid Capsules Compared to Authorized Capsules. [PDF]

Pharmaceutics
Bouwhuis N, Jacobs BAW, Majait S, Vaz FM, Hollak CEM, Swart EL, Kemper EM.   +6 more
europepmc   +1 more source

Corrigendum: Frontier and hotspot evolution in cerebrotendinous xanthomatosis: a bibliometric analysis from 1993 to 2023. [PDF]

Front Neurol
Luo F, Ding Y, Zhang S, Diao J, Yuan B.
europepmc   +1 more source

Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review

Brain Sciences, 2023
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase.
Braga-Neto P, Pedro Lucas Grangeiro De Sá Barreto Lima, Matheus dos Santos Carvalho   +2 more
exaly   +2 more sources

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Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure

Pediatric Transplantation, 2022
Cerebrotendinous xanthomatosis (CTX) is a disorder of bile acid (BA) metabolism due to biallelic mutations in CYP27A1. The deposition of cholesterol and cholestanol in multiple tissues results, manifesting as neurologic disease in adults or older ...
A. Pietrobattista, M. Spada, M. Candusso, S. Boenzi, C. Dionisi-Vici, P. Francalanci, A. Morrone, L. Ferri, G. Indolfi, E. Agolini, G. Giordano, L. Monti, G. Maggiore, A. Knisely   +13 more
semanticscholar   +1 more source

Update on cerebrotendinous xanthomatosis

Current Opinion in Lipidology, 2021
Purpose of review Cerebrotendinous xanthomatosis (CTX) is a rare genetic lipid storage disorder with highly pleomorphic clinical phenotype. Complications of this disease can be devastating and may include severe cognitive impairment and dementia in later
Andrea E DeBarber, P. B. Duell
semanticscholar   +1 more source

Cerebrotendinous xanthomatosis without neurological involvement

Journal of Internal Medicine, 2021
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism. Neurological symptoms are considered to be a clinical hallmark of untreated adult patients.
B. Stelten, F. Raal, A. Marais, N. Riksen, J. E. Roeters van Lennep, P. Duell, M. Graaf, L. Kluijtmans, R. Wevers, A. Verrips   +9 more
semanticscholar   +1 more source

Cerebrotendinous Xanthomatosis

Neurologic Clinics, 1989
Cerebrotendinous xanthomatosis is a rare familial lipid storage that is caused by a defect in bile acid synthesis. As a result, large amounts of cholestanol, the 5 alpha-dihydro derivative of cholesterol, accumulate in virtually every tissue, with extra large deposits in the nervous system, xanthomas, and bile.
V M, Berginer, G, Salen, S, Shefer
openaire   +2 more sources

Cerebrotendinous xanthomatosis

Current Opinion in Lipidology, 1994
Cerebrotendinous xanthomatosis is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27) gene. Recent cloning and characterization of CYP27 enables further analysis and understanding of the pathophysiology of this multisystem disease.
E, Leitersdorf, V, Meiner
openaire   +2 more sources