Results 71 to 80 of about 5,605 (209)

Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.

Journal of Lipid Research, 1982
Serum 26-hydroxycholesterol was quantitated by isotope dilution-mass spectrometry in normal individuals and in patients with cerebrotendinous xanthomatosis. In the normal individuals, the concentration of 26-hydroxycholesterol in serum ranged from 4.3 to
N B Javitt, E Kok, B Cohen, S Burstein
doaj   +1 more source

The Influence of Schwann Cell Metabolism and Dysfunction on Axon Maintenance

Glia, Volume 73, Issue 12, Page 2338-2352, December 2025.
Main Points Sensory neurons depend on Schwann cells for survival. Schwann cells provide energy for axons dunng rapid firing or after injury. Dysregulated metabolism in Schwann cells can lead to the production of neurotoxic and axon degeneration. ABSTRACT Schwann cells are the glial cells in the peripheral nervous system responsible for the production ...
Rose Follis, Vishwanath V. Prabhu, Bruce D. Carter   +2 more
wiley   +1 more source

An elegant technology for ultrasensitive impedimetric and voltammetric determination of cholestanol based on a novel molecularly imprinted electrochemical sensor [PDF]

, 2020
In this work, a novel molecularly imprinted electrochemical sensor (MIES) has been fabricated based on electropolymerization of a molecularly imprinted polymer (MIP) onto a glassy carbon electrode (GCE) modified with gold-palladium alloy nanoparticles ...
Díaz Cruz, José Manuel, Jalalvand, Ali R., Jalili, Faramarz, Soleimania, Shokoufeh, Zangeneh, Mohammad Mahdi   +4 more
core   +1 more source

Self-induced water intoxication : a case report [PDF]

, 1988
CITATION: Emsley, R. A. & Taljaard, J. J. F. 1988. Self-induced water intoxication : a case report. South African Medical Journal, 74:80-81.The original publication is available at http://www.samj.org.zaA 19-year-old female schizophrenic with self ...
Emsley, R. A., Taljaard, J. J. F.
core  

Absolute configuration at carbon 23 of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,23,25-pentol excreted by patients with cerebrotendinous xanthomatosis.

Journal of Lipid Research, 1984
Absolute configuration at C-23 of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,23,25-pentol, one of the bile alcohols isolated from the patients with cerebrotendinous xanthomatosis, was unequivocally determined as 23S by conversion of a key intermediate ...
K Kihira, A Kubota, T Hoshita
doaj   +1 more source

Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review

Brain Science, 2023
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase.
Rita Almeida Ribeiro, Sophia Costa Vasconcelos, P. L. G. S. B. Lima, E. Coelho, Anna Melissa Noronha Oliveira, Emanuel de Assis Bertulino Martins Gomes, L. Mota, Lucas Soares Radtke, M. S. N. Carvalho, David Augusto Batista Sá Araújo, Maria Suelly Nogueira Pinheiro, Vitor Carneiro de Vasconcelos Gama, R. M. Júnior, P. B. Neto, P. Nóbrega   +14 more
semanticscholar   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Enzymes

British Journal of Pharmacology, Volume 182, Issue S1, Page S307-S403, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Doriano Fabbro, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Stephanie Annett, Detlev Boison, Kathryn Elisa Burns, Carmen Dessauer, Jürg Gertsch, Nuala Ann Helsby, Angelo A. Izzo, Rennolds Ostrom, Ester Pagano, Andreas Papapetropoulos, Nigel J. Pyne, Susan Pyne, Tracy Robson, Roland Seifert, Johannes‐Peter Stasch, Csaba Szabo, Mario van der Stelt, Albert van der Vliet, Val Watts, Szu Shen Wong   +31 more
wiley   +1 more source

Consensus Paper: Radiological Biomarkers of Cerebellar Diseases [PDF]

, 2015
Hereditary and sporadic cerebellar ataxias represent a vast and still growing group of diseases whose diagnosis and differentiation cannot only rely on clinical evaluation.
A D’Abreu, A Ginestroni, A Ieraci, A Inagaki, A Kelp, A Nocuń, A Poretti, A Poretti, A Rolfs, A Solodkin, A Varrone, AC Stanfield, AG Asokan, AJ Barkovitch, AJ Clapp, Alessandra Vella, Allison Jack, AM Tadesco, AM Wong, Andrea P. Jackowski, Andrea Righini, AR Luft, AR Luft, B Kuemerle, B Soong, BC Jung, C Andrés De, C Cheung, C Garel, C Good, C Jacova, C Limperopoulos, C Lukas, C Moller, C Parazzini, C Scaglione, CC Parker, Cecilia Parazzini, CH Lyoo, Christophe Habas, CJ Stoodley, CW Yoon, D Beitzke, DJG Schutter, DL Vargas, DS Woodruff-Park, E Apartis, E Canu, E Courchesne, E Matsusue, E Matsusue, E Pagani, E Prodi, ED Vidoni, F Brancati, F D’Agata, F Eichler, G Malinger, G Tedeschi, GS Young, H Akhlaghi, H Akhlaghi, H Jacobi, HB Cleavinger, I Ferrer, I Iltis, I Sousa, ID Wilkinson, J Honnorat, J Mazere, J Skefos, J Wegiel, JA Brunberg, JB Schulz, JL Whitwell, JM Kim, Jörg B. Schulz, K Andersen, K Brockmann, K Burk, K Burk, K Ishii, K Lasek, K Nanri, K Nanri, K Pierce, K Reetz, K Reetz, K Reetz, K Reetz, K Specht, K-D Choi, Kathrin Reetz, KB Loh, L Baldaçara, L Ji, L Schols, LA Corben, Leonardo Baldarçara, LI Wallis, LR Ramos, LSK Hokkanen, M Abele, M Anheim, M Bricout, M Catani, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Mascalchi, M Minnerop, M Rapoport, M Sjobeck, M Verly, M Walterfang, M Walterfang, M. Hadjivassiliou, MA Cheh, Mario Mascalchi, MC Bianchi, ME Steenweg, MR Hatab, N Boddaert, N Gharani, N Kimura, N Kimura, N Kimura, N Ramnani, N Stefano De, Nigel Hoggard, O Bas, OS Cohen, P Braga-Neto, P Brown, P Wang, PA Thomann, PS Wang, R Cabeza, R Della Nave, R Della Nave, R Hashimoto, R Scheid, R Sui, S Alcauter, S Basu, S Currie, S Currie, S Currie, S Currie, S Dohlinger, S Gilman, S Gilman, S Nagamitsu, S Ortega-Cuberoa, S Tanaka, SA Cooper, Sara Jane Webb, SH Fatemi, SH Fatemi, SH Fatemi, SH Fatemi, SJ Webb, SM Boesch, SM Ravizza, Stuart Currie, T Klockgether, T Tarui, T Wu, TD Miller, W Scharmüller, WR Kates, Y Bruecker De, Y Daaboul, Y Hosoi, Y Sunaga   +176 more
core   +1 more source

Rapidly progressive dementia and intractable diarrhea: a teaching case report and a systematic review of cognitive impairment in Whipple's disease [PDF]

, 2022
Objective Whipple's disease (WD) is a systemic, chronic, relapsing disease caused by Tropheryma whipplei, which can mimic signs and symptoms of various clinical entities.
Lovati, Carlo, Manini, Arianna, Pantoni, Leonardo, Querzola, Giacomo   +3 more
core   +1 more source

Role of cytology in early diagnosis of cerebrotendinous xanthomas

Journal of Cytology, 2017
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestenol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive ...
Shreosee Roy, Arghya Bandyopadhyay, Kaushik Bose, Soumi Bhattacharyya   +3 more
doaj   +1 more source