Results 141 to 150 of about 3,665 (213)

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect. [PDF]

Int J Mol Sci
Pachajoa H, Bonilla S, Nieva-Posso DA.
europepmc   +1 more source

An Aggressive form of Cerebrotendinous Xanthomatosis

, 2022
Victor Evangelista Rodrigues Pereira, Roberto Pereira Santos, Thaís Ecard Dacache, Beatriz de Moraes Rivera, Carolina Rouanet, Marcos Martins da Silva, Paulo Roberto Valle Bahia   +6 more
openalex   +2 more sources

Product development and quality of pharmacy compounded chenodeoxycholic acid capsules for Dutch cerebrotendinous xanthomatosis patients. [PDF]

Front Pharmacol, 2023
Bouwhuis N, Jacobs BAW, Kemper EM.
europepmc   +1 more source

Cerebrotendinous xanthomatosis: A report of 3 cases

JAAD Case Reports, 2020
Katharine Saussy, MD, Neelesh Jain, BS, Andrea Murina, MD   +2 more
doaj   +1 more source

Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis. [PDF]

Front Neurol
Guoliang Y, Zhaoxia W, Lin Z, Xuan C, Xiaodong Z, Xiaolian X, Yangli S, Tianli Z, Yanping Z, Jiangping W, Qing L.   +10 more
europepmc   +1 more source

Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method

, 2016
Lisa A. Bleyle, Hidde H. Huidekoper, Frédéric M. Vaz, Renu Singh, Robert D. Steiner, Andrea E. DeBarber   +5 more
openalex   +1 more source

Spinal phenotype of cerebrotendinousxanthomatosis: A pitfall in the diagnosis ofmultiple sclerosis [PDF]

, 2018
Bartholdi, D., Hess, K., Jung, H., Sistermans, E., Verrips, A., Wevers, R., Zumsteg, D.   +6 more
core  

Cerebrotendinous Xanthomatosis: Report of Two Siblings With the Same Mutation but Variable Presentation. [PDF]

Cureus, 2023
Mahadevan N, Thiruvadi V, C P, A R, A M.
europepmc   +1 more source

Cerebrotendinous Xanthomatosis – Case Series Highlighting the Role of Imaging in Diagnosis

, 2020
Birma Ram, Manoj Gopinath, Pankaj Sharma, Vinay Maurya, Gunjan Mukherjee   +4 more
openalex   +1 more source

CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report. [PDF]

World J Clin Cases, 2022
Li ZR, Zhou YL, Jin Q, Xie YY, Meng HM.
europepmc   +1 more source