Results 101 to 110 of about 4,294 (176)

Cerebrotendinous Xanthomatosis: electrophysiological and ultrasonographic characterization in a Brazilian study

Arquivos de Neuro-Psiquiatria
Background: Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disorder related to bile acid biosynthesis pathways with pathogenic variants in CYP27A1.
Antonio Edvan Camelo Filho, P. L. G. S. B. Lima, P. R. Nóbrega, P. Braga-Neto   +3 more
semanticscholar   +1 more source

Cerebrotendinous Xanthomatosis

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

Case Report and Current Literature Review of Adult Cerebrotendinous Xanthomatosis: Evaluation of Treatment Response Based on Gait Analysis Adult Cerebrotendinous Xanthomatosis

Haseki Tıp Bülteni
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease caused by a mutation in the CYP27A1 gene and deficiency of the mitochondrial 27-sterol hydroxylase enzyme.
Eser Bulus, Sahin Avci, F. Feriha Ozer
doaj   +1 more source

Screening for cerebrotendinous xanthomatosis [PDF]

Journal of Inherited Metabolic Disease, 2014
James J, Pitt, Heidi, Peters
openaire   +2 more sources

Cerebrotendinous xanthomatosis [PDF]

, 2020
Gerald Salen, Shailendra B. Patel
openaire   +2 more sources

Cerebrotendinous Xanthomatosis [PDF]

BMJ, 1972
A S, Truswell, P J, Pfister
openaire   +4 more sources

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