Results 121 to 130 of about 3,665 (213)

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

ePoster

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

2837 A novel pathogenic mutation associated with cerebrotendinous xanthomatosis [PDF]

, 2023
Aaron Gaekwad, Matthew C. Kiernan, William Huynh   +2 more
openalex   +1 more source

Cholesterol synthesis defects: sterol analysis in the diagnosis of 25 Portuguese patients [PDF]

, 2016
Os esteróis desempenham um papel fundamental nos processos fisiológicos de praticamente todos os organismos vivos. O esterol mais abundante nos seres humanos é o colesterol, o qual desempenha uma multiplicidade de funções desde a estrutural à ...
Dias, Aureliano Jorge, Leite, Mónica Sofia, Valongo, Carla, Vilarinho, Laura   +3 more
core  

Management of the ataxias : towards best clinical practice [PDF]

, 2016
This document aims to provide recommendations for healthcare professionals on the diagnosis and management of people with progressive ataxia. The progressive ataxias are rare neurological conditions, and are often poorly understood by healthcare ...
Bates, Claire, Baxter, Peter, Bonney, Harriet, Bremner, Fion, Bunn, Lisa, Carrillo Perez-Tome, Maria, Chung, Mark, Cipolotti, Lisa, de Silva, Rajith, Duberley, Kate, Ealing, John, Emmanuel, Anton, Giunti, Paola, Greenfield, Julie, Hadjivassilliou, Marios, Harshavardhana, N.S., Hayward, Kate, Hendriksz, Christian, Hersheson, Joshua, Horvath, Rita, Hurford, Joanne, Jaffer, Fatima, Kilbride, Cherry, Lowit, Anja, Marsden, Jonathan, Nemeth, Andrea, Noordeen, M H Hilali, Panicker, Jalesh, Pantazis, Antonios, Parkinson, Michael H, Redmond, Liz, Uus, Kai   +31 more
core   +1 more source

Absolute configuration of pentahydroxy bile alcohols excreted by patients with cerebrotendinous xanthomatosis: a circular dichroism study

, 1978
B. Dayal, Gerald Salen, G S Tint, V. Toome, Sarah Shefer, E.H. Mosbach   +5 more
openalex   +1 more source

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

Cerebrotendinous xanthomatosis: A multidisciplinary approach for early diagnosis

, 2021
Neha Kumari, Ashish Rustagi, Geetika Khanna, Dharmendra Kumar Singh   +3 more
openalex   +1 more source

Cerebrotendinous Xanthomatosis

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

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