Results 101 to 110 of about 5,605 (209)

Genetic analysis of indicators of cholesterol synthesis and absorption: Lathosterol and phytosterols in Dutch twins and their parents [PDF]

, 2003
Significant familial aggregation was observed for plasma levels of lathosterol (an indicator of whole-body cholesterol synthesis) and plant sterols campesterol and β-sitosterol (indicators of cholesterol absorption) in 160 Dutch families consisting of ...
Boomsma, D.I., Frants, R.R., Gevers Leuven, J.A., Kempen, H.J.M., Princen, H.M.G.   +4 more
core   +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

Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study

Journal of Inherited Metabolic Disease
Cerebrotendinous xanthomatosis is a rare and treatable metabolic disorder related to the accumulation of cholestanol. This disorder is primarily associated with motor and cognitive impairments, although the latter has not been extensively characterized ...
Quentin Salardaine, Natalia Shor, Nicolas Villain, Frédérique Bozon, M. Amador, Clarisse Duchon, N. Mélé, Manuel Schiff, A. Brassier, Y. Nadjar   +9 more
semanticscholar   +1 more source

Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene

Orphanet Journal of Rare Diseases
Background Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by loss of function variants in the CYP27A1 gene which encodes sterol 27-hydroxylase, on chromosome 2q35.
Muhammed Köroğlu, Mustafa Karakaplan, Enes Gündüz, Betul Kesriklioglu, E. Ergen, O. Aslantürk, Z. Özdemir   +6 more
semanticscholar   +1 more source

Chenodeoxycholic acid (CDCA) treatment during pregnancy in women with cerebrotendinous xanthomatosis (CTX): lessons learned from 19 pregnancies.

Genetics in Medicine
PURPOSE Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive bile acid synthesis disorder. Biallelic pathogenic variants in CYP27A1, encoding for sterol 27-hydroxylase, impair cholic acid (CA) and chenodeoxycholic acid (CDCA) synthesis and
T. Falik Zaccai, S. Hassin-Baer, Nehama Cohen Kfir, P. B. Duell, Mark Neerhof, Ronen Sloma, M. Roitman, Y. Kisanuki, A. Verrips, Andrea E DeBarber   +9 more
semanticscholar   +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

Cerebrotendinous xanthomatosis [PDF]

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

Cerebrotendinous Xanthomatosis, a Treatable Disorder Often Missed: Case Series of Three Patients Confirmed by Genetic Testing

Neurology India
Cerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive disorder with varied clinical manifestations and age of onset and is often diagnosed late. We report three cases of CTX who presented at our center with clinical features of frequent
Arjimand Yaqoob, W. Dar, Adnan Raina, Zubair Khuja, Amit Chandra, Immia Bukhari, H. Ganie, Maqbool Wani, Ravouf Asimi   +8 more
semanticscholar   +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  

Meat levels of 25-hydroxyvitamin D3 in Moroccan one-humped dromedary camels (Camelus dromedarius) [PDF]

, 2013
The aim of this study was to determine the 25-hydroxyvitamin D3 (25-OH-D3) amounts in meat and serum of the Moroccan one-humped camels. The obtained results showed that the 25-OH-D3 amounts in serum (ng/mL), liver, kidney and muscle (ng/g) were 390±45; 7.
Abouhafs, Rachid, Bargaa, Rita, El Abbadi, Najia, El Hassane, Tahri, El Khasmi, Mohammed, Farh, Mohamed, Faye, Bernard, Riad, Fouad, Safwate, Abdallah   +8 more
core   +1 more source