Results 61 to 70 of about 1,415 (157)

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Many inborn errors of metabolism affect pathways involved in the synthesis of a metabolite that has an important biochemical or physiological function, and adverse effects of the disorder can be attributed to the lack of this metabolite. Thus, there is the opportunity for treatment by ‘product replacement’. One of the disorders in the pathways
Peter T. Clayton, Rohit Hirachan, Elaine Murphy   +2 more
wiley   +1 more source

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, Yun Zhang, Hui-Xia Lin, Hai-Lin Dong, Wang Ni, Zhi-Ying Wu   +5 more
doaj   +1 more source

Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation

Stem Cell Research, 2016
Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts from a 60-year-old cerebrotendinous xanthomatosis (CTX) patient, carrying a homozygous mutation c. [1183C>A]; p. R395S in CYP27A1.
Philip Höflinger, Stefan Hauser, Yvonne Theurer, Stefanie Weißenberger, Carlo Wilke, Ludger Schöls   +5 more
doaj   +1 more source

Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Bile acid synthesis defects (BASDs) comprise a group of rare, often severe, metabolic disorders. Bile acid replacement therapy decreases toxic bile acid intermediates production and improves biochemical profiles, potentially delaying or stabilizing disease progression.
Yasmin Polak, Elles Marleen Kemper, Marc Engelen, Femke C. C. Klouwer, Kevin Berendse, Frédéric M. Vaz, Bart G. P. Koot, Eleonora (Noortje) L. Swart, Carla E. M. Hollak   +8 more
wiley   +1 more source

Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees

Journal of Lipid Research, 2001
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid biosynthesis. Clinically, CTX patients present with tendon xanthomas, juvenile cataracts, and progressive neurological dysfunction and can be diagnosed by the ...
Mi-Hye Lee, Starr Hazard, John D. Carpten, Sonia Yi, Jonathan Cohen, Glenn T. Gerhardt, Gerald Salen, Shailendra B. Patel   +7 more
doaj   +1 more source

Alternative pre-mRNA splicing of the sterol 27-hydroxylase gene (CYP 27) caused by a G to A mutation at the last nucleotide of exon 6 in a patient with cerebrotendinous xanthomatosis (CTX)

Journal of Lipid Research, 1998
A recently identified G to A mutation at the last nucleotide of exon 6 of the sterol 27-hydroxylase gene (CYP 27) in a patient with cerebrotendinous xanthomatosis (CTX) was shown here to cause alternative pre-mRNA splicing of the gene.
Wengen Chen, Shunichiro Kubota, Yousuke Seyama   +2 more
doaj   +1 more source

Increased plasma bile alcohol glucuronides in patients with cerebrotendinous xanthomatosis: effect of chenodeoxycholic acid

Journal of Lipid Research, 1987
Large quantities of C27 bile alcohols hydroxylated at C-25 are excreted in the bile and urine of patients with cerebrotendinous xanthomatosis, a lipid storage disease that results from defective bile acid synthesis.
A K Batta, G Salen, S Shefer, G S Tint, M Batta   +4 more
doaj   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis

Genetics and Molecular Biology, 2015
Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol ...
Susan V. Smalley, Yudith Preiss, José Suazo, Javier Andrés Vega, Isidora Angellotti, Carlos F. Lagos, Enzo Rivera, Karin Kleinsteuber, Javier Campion, J. Alfredo Martínez, Alberto Maiz, José Luis Santos   +11 more
doaj   +1 more source

Cerebrotendinous xanthomatosis: A case report

Asian Journal of Surgery, 2022
Zhiyong Xiao, Ling Li, Wen Liao, Zhanghua Li   +3 more
doaj   +1 more source