Results 101 to 110 of about 3,665 (213)

Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis

, 2022
Jean‐Baptiste Bonnet, Philippe Couvert, M. Di-Filippo, F. Boissière, Jean‐Paul Cristol, Thibault Sutra, David Cheillan, Philippe Moulin, Ariane Sultan   +8 more
openalex   +2 more sources

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

Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report [PDF]

, 2021
Mohamed Ahmed Ghassem, Aziza Mounach, Julien Djossou, Hamza Toufik, N. El Ouardi, L. Achemlal, Ahmed Bezza   +6 more
openalex   +1 more source

Cerebrotendinous xanthomatosis [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2003
G, Castelnovo, L, Jomir, S, Bouly
openaire   +2 more sources

Update on leukodystrophies and developing trials [PDF]

, 2023
Leukodystrophies are a heterogeneous group of rare genetic disorders primarily affecting the white matter of the central nervous system. These conditions can present a diagnostic challenge, requiring a comprehensive approach that combines clinical ...
Ceravolo, G, Gitto, E, Hartley, L, Houlden, H, Pellerin, D, Squadrito, V, Zhelcheska, K   +6 more
core  

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

Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid [PDF]

, 2021
Mahjabin Islam, Nigel Hoggard, Marios Hadjivassiliou   +2 more
openalex   +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

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome [PDF]

, 2017
Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene,
Baudis, Michael, Bauer, Peter, Benedicenti, Francesco, Bornemann, Antje, Claeys, Kristl G., de Goede, Christian, Dufke, Andreas, Finkel, Richard S., Goebel, Hans H., Häussler, Martin, Inzana, Francesca, Kingston, Helen, Kirschner, Janbernd, Krieger, Michael, Lia Taratuto, Ana, Medne, Livija, Muschke, Petra, Pirra, Laura, Rivier, François, Roos, Andreas, Rudnik-Schöneborn, Sabine, Senderek, Jan, Sonmez, Fatma Mujgan, Spengler, Sabrina, Stanzial, Franco, Stendel, Claudia, Synofzik, Matthis, Tay, Stacey Kiat-Hong, Topaloglu, Haluk, Uyanik, Gökhan, Wand, Dorothea, Weis, Joachim, Williams, Denise, Zerres, Klaus   +33 more
core  

Cerebrotendinous xanthomatosis in adults: clinical case [PDF]

, 2015
О. Е. Троценко, N. KYSELCHUK, A. TSYMBRAK   +2 more
openalex   +1 more source