Results 111 to 120 of about 5,605 (209)

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

Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis

Genetics and Molecular Biology, 2015
Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol ...
Susan V. Smalley, Yudith Preiss, José Suazo, Javier Andrés Vega, Isidora Angellotti, Carlos F. Lagos, Enzo Rivera, Karin Kleinsteuber, Javier Campion, J. Alfredo Martínez, Alberto Maiz, José Luis Santos   +11 more
doaj   +1 more source

Cerebrotendinous Xanthomatosis

The Primary Care Companion For CNS Disorders
Carson BE, De Jesus O.
europepmc   +2 more sources

Cerebrotendinous xanthomatosis. [PDF]

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

Cerebrotendinous xanthomatosis: A case report

Asian Journal of Surgery, 2022
Zhiyong Xiao, Ling Li, Wen Liao, Zhanghua Li   +3 more
doaj   +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  

Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis

, 2010
International audienceObjective: To quantify total and regional brain damage in subjects with cerebrotendinous xanthomatosis (CTX) by using MR-based quantitative measures.
A. Federico, A. Mignarri, C. Di Perri, M. Battaglini, M. L. Stromillo, M. T. Dotti, N. De Stefano, S. Guerrera, S. Marino   +8 more
core   +3 more sources

Rare genetic cerebrotendinous xanthomatosis cases (CTX) without cholestanol elevation but with prominent cholesterol-rich tendon xanthomas.

Journal of Clinical Lipidology
Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disease attributed to the mutation of the gene CYP27A1, resulting in sterol 27-hydroxylase deficiency characterized by deposition of cholestanol and cholesterol in several tissues, like ...
R. Alves, Valéria Sutti Nunes, Ney Carter do Carmo Borges Junior, E. R. Nakandakare, E. Quintão   +4 more
semanticscholar   +1 more source

JOURNEY TO DIAGNOSIS WITH A RARE NEUROMETABOLIC DISEASE, CEREBROTENDINUS XANTOMATOSIS (VAN BOGÆRT DISEASE) AND CONCOMITANT PSYCHIATRIC SYMPTOMS [PDF]

, 2023
Ayça Kaloğlu, Hatice, Bora Nazli, Şerif   +1 more
core   +2 more sources

A Case of Familial Hypercholesterolemia and Cerebrotendinous Xanthomatosis With Multiple Giant Xanthomas

Annals of Internal Medicine: Clinical Cases
A 56-year-old woman was referred to our hospital for evaluation of multiple infectious giant xanthomas on her upper and lower limbs. She was initially diagnosed with heterozygous familial hypercholesterolemia with a proprotein convertase subtilisin/kexin
Tatsuya Maruhashi, Shogo Matsui, Shinji Kishimoto, Masato Kajikawa, Yukihito Higashi   +4 more
doaj   +1 more source