Results 101 to 110 of about 2,313 (193)

Cerebrotendinous Xanthomatosis

Neurologia (Barcelona, Spain), 2008
FEDERICO, ANTONIO, DOTTI, MARIA, GALLUS, GIAN NICOLA   +2 more
  +6 more sources

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis

, 1996
Aad Verrips, Gerry C. H. Steenbergen‐Spanjers, Jonathan Luyten, Lambert P.W.J. van den Heuvel, A. Keyser, F.J.M. Gabreëls, Ron A. Wevers   +6 more
openalex   +2 more sources

Identification of two Iranian siblings with cerebrotendinous xanthomatosis: a case report [PDF]

, 2023
Zahra Beyzaei, Hossein Moravej, Mohammad Hadi Imanieh, Soroor Inaloo, Bita Geramizadeh   +4 more
openalex   +1 more source

A useful multi-analyte blood test for cerebrotendinous xanthomatosis

, 2014
Andrea E. DeBarber, Jenny Luo, Roberto Giugliani, Carolina Fischinger Moura de Souza, John Chiang, Louise S. Merkens, Anuradha S. Pappu, Robert D. Steiner   +7 more
openalex   +2 more sources

Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation

, 2020
Karan Desai, Piyush Kumar, Parthvi Ravat, Sangeeta Ravat, Neeraj Jain, Shruti Agrawal, Rahil Ansari   +6 more
openalex   +1 more source

P254: Chenodeoxycholic acid (CDCA) improves biochemical parameters in patients with cerebrotendinous xanthomatosis (CTX) presenting with normal cholestanol levels [PDF]

Andrea E. DeBarber, Barton P. Duell, Taylor Peabody, Henry Moore, Eugenia Gianos, Ahmed Calvo, Rana Dutta, Tiziano Pramparo, Dheepika Weerasinghe, Eric Dybbro   +9 more
openalex   +1 more source

Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing

, 2017
Hayato Tada, Syota Inaba, Daria Pozharitckaia, Masa‐aki Kawashiri   +3 more
openalex   +2 more sources

Role of the 26-hydroxylase in the biosynthesis of bile acids in the normal state and in cerebrotendinous xanthomatosis. An in vivo study. [PDF]

, 1983
Ingemar Björkhem, O. Fausa, Gunnar Hopen, H Oftebro, Jan I. Pedersen, Steinar Skrede   +5 more
openalex   +1 more source

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start

, 2018
Bianca M. L. Stelten, Hidde H. Huidekoper, Bart P.C. van de Warrenburg, Eva H. Brilstra, Carla E. M. Hollak, Harm R. Haak, Leo A. J. Kluijtmans, Ron A. Wevers, Aad Verrips   +8 more
openalex   +2 more sources

Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis

, 2012
Paola Caroppo, Federico D’Agata, Andrea Mignarri, Maria Laura Stromillo, Maria Teresa Dotti, Tiziana Mongini   +5 more
openalex   +2 more sources