Results 111 to 120 of about 2,313 (193)

Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches. [PDF]

Neurogenetics
Ďurina P, Bandura A, Chandoga J, Juhosová M, Repiský M, Jungová P, Roháľová J, Jarásková D, Pohorelská V, Dallemule S, Mattošová S, Brennerová K, Okaľová K, Bohuniczky I, Böhmer D.   +14 more
europepmc   +1 more source

Serum Neurofilament Light Levels in Patients with Cerebrotendinous Xanthomatosis: a Pilot Study. [PDF]

Cerebellum
Camelo-Filho AE, Sá Barreto Lima PLG, da Rosa RF, Miyajima OR, Marcucci MHB, de Oliveira Scott SS, de Arruda Furtado LET, Frota AF, Soares MVR, Macedo DS, Pessoa A, Nóbrega PR, Braga-Neto P.   +12 more
europepmc   +1 more source

Cerebrotendinous xanthomatosis presenting with schizophrenia-like disorder: A case report. [PDF]

World J Psychiatry, 2023
Ling CX, Gao SZ, Li RD, Gao SQ, Zhou Y, Xu XJ.   +5 more
europepmc   +1 more source

Utilization of screening for cerebrotendinous xanthomatosis in adult patients with idiopathic ataxia. [PDF]

Front Neurol
Sipma R, Dean M, DeBarber A, Yacoubian T.   +3 more
europepmc   +1 more source

Cerebrotendinous xanthomatosis (CTX)におけるLDLの被酸化能

, 1995
伸子, 嶋津
openalex   +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

An Aggressive form of Cerebrotendinous Xanthomatosis

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

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

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: A Treatable Disease With Juvenile Cataracts as a Presenting Sign

, 2011
Dinelli M. Monson
openalex   +2 more sources