Results 71 to 80 of about 2,521 (182)

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

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

Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy

, 2003
In this report, we review the clinical, biochemical, pathophysiologic, and therapeutic aspects of cerebrotendinous xanthomatosis. We stress the importance of early diagnosis and treatment. In addition, we describe our experience in treating patients with
FEDERICO A., DOTTI M.
core   +1 more source

Cerebrotendinous xanthomatosis: clinical and MRI study (a case report)

, 1990
We report a patient with cerebrotendinous xanthomatosis (CTX) presenting with dementia, spastic tetraparesis and an unreported akinetic-rigid syndrome.
Di Piero, V., M. Fiorelli, BOZZAO L, Bozzao, L., FIORELLI, Marco, V. D. Piero, Fiorelli, M., DI PIERO, Vittorio, FEDERICO A., A. Federico, Federico, A., BASTIANELLO, STEFANO, L. Bozzao, BASTIANELLO S, Bastianello, S.   +14 more
core   +1 more source

CEREBROTENDINOUS XANTHOMATOSIS: HEARD OF IT? [PDF]

, 2015
Cerebrotendinous Xanthomatosis (CTX) is a rare, autosomal recessive, lipid storage disorder, characterized by the accumulation of cholesterol and cholestanol, predominantly in the brain, spinal cord, peripheral nerves, tendons, lungs, liver, and kidneys.
Sankalp, Nair, Rajesh Parameshwaran, Nayal, Bhavna   +2 more
core  

Egy ritka, veleszületett neurodegeneratív betegség: a cerebrotendinosus xanthomatosis laboratóriumi diagnosztikája [PDF]

, 2014
Cerebrotendinous xanthomatosis is a rare neurodegenerative disease characterized by the accumulation of cholesterol and cholestanol in the brain and the tendons caused by mutations of the gene encoding sterol 27-hydroxylase (CYP27A1), which is involved ...
Katkó Mónika, Paragh György, Balogh István, Kovács G. Gábor, Madar, László, Kapás István, Molnár, Mária Judit, Madar László, Seres Ildikó, Harangi, Mariann, Molnár Mária Judit, Balogh, István, Harangi Mariann, Varga, Viktória Evelin, Kovács, G. Gábor, Harangi János, Kapás, István, Paragh, György, Varga Viktória Evelin, Harangi, János, Seres, Ildikó, Katkó, Mónika   +21 more
core   +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

Cerebrotendinous xanthomatosis [PDF]

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

Evaluation of the effect of chenodeoxycholic acid treatment skeletal system findings in patients with cerebrotendinous xanthomatosis

, 2019
Aim: The primary purpose of the present study is to evaluate the effect of chenodeoxycholic acid treatment on skeletal system findings in patients with cerebrotendinous ...
Cansever, Mehmet Serif, Zubarioglu, Tanyel, Bilen, Inci Pinar, Dogan, Beyza Belde, Enver, Ece Oge, Zeybek, Ayse Cigdem Aktuglu, Kiykim, Ertugrul   +6 more
core   +1 more source