Results 41 to 50 of about 7,351 (200)

Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis.

Journal of Lipid Research, 1990
Plasma sterol levels in a family of sitosterolemia and xanthomatosis were determined by a high performance liquid chromatography. Three affected siblings manifested marked xanthomatosis including subcutaneous soft tissues and generalized atherosclerosis.
H Hidaka, T Nakamura, T Aoki, H Kojima, Y Nakajima, K Kosugi, I Hatanaka, M Harada, M Kobayashi, A Tamura   +9 more
doaj   +1 more source

Сerebrotendinous xanthomatosis

Анналы клинической и экспериментальной неврологии, 2017
Cerebrotendinous xanthomatosis is a rare autosomal recessivedisorder of cholesterol and bile acid metabolism associated withthe sterol 27-hydroxylase gene CYP27A1.
G. E. Rudenskaya, E. Yu. Zakharova
doaj   +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

Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene

Dermatologica Sinica, 2018
Cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive lipid storage disorder which is caused by mutations in gene CYP27A1 leads to deficiency of enzyme sterol 27-hydroxylase.
Jeng Yuan, Pi-Shan Sung, Julia Yu-Yun Lee, Sheau-Chiou Chao   +3 more
doaj   +1 more source

Medicine Development and Access for Rare Diseases: Can We Do Better?

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Recent advances in molecular biology and genomics have significantly enhanced our understanding of rare diseases. While enabling the development of highly targeted therapies, it also leads to complexity in the development, regulation, and accessibility of orphan medicines.
Carla E. M. Hollak, Noa Rosenberg, Colinda Post, Nina Stolwijk, Evert Manders, Daphne Schoenmakers, Bart Penninx, Niels Reijnhout, Kathelijn Verdeyen, Roel Jonker, Annet M. Bosch, Mirjam Langeveld, Vincent van der Wel, Saco de Visser, Sibren van den Berg   +14 more
wiley   +1 more source

Adult-Onset Treatable Leukodystrophy: Cerebrotendinous Xanthomatosis

Neuropsychiatric Investigation, 2022
Cerebrotendinous xanthomatosis is a leukodystrophy resulting from sterol 27-hydroxylase enzyme deficiency caused by CYP27A1 gene mutations. It is characterized by diarrhea and cataract in children, xanthomas in adolescents, and progressive neurologic ...
Gülçin Benbir Şenel, Hikmet Abbaszade, Şeyma Tekgül, Nazlı Başak, Hülya Apaydın   +4 more
doaj   +1 more source

Targeting mitochondrial 18 kDa translocator protein (TSPO) regulates macrophage cholesterol efflux and lipid phenotype [PDF]

, 2014
The aim of the present study was to establish mitochondrial cholesterol trafficking 18 kDa translocator protein (TSPO) as a potential therapeutic target, capable of increasing macrophage cholesterol efflux to (apo)lipoprotein acceptors.
Anne-Marie Allen, Annette Graham, Batarseh, Bird, Borthwick, Borthwick, Brown, Dmitrova-Shumkovska, Engel, Falchi, Farke, Feramisco, Fernandez-Hernando, Gallus, Gerrity, Gut, Hebbachi, Janice M. W. Taylor, Kannel, Khan, Lecanu, Madamanchi, Mercer, Ning, Ning, Ogata, Oram, Pandak, Puddu, Pyper, Rae, Ren, Rigamonti, Rone, Rosenson-Schloss, Rupprecht, Schnoor, Schultz, Taylor, Vanhee, Venkateswaran, Wang, Xu, Yelieev, Zeng, Zeng, Zoltan   +46 more
core   +1 more source

Eruptive xanthoma as a warning sign of uncontrolled hypertriglyceridemia presenting with acute pancreatitis and uncontrolled type II diabetes mellitus: A case report

Clinical Case Reports
Key Clinical Message Managing diabetic ketoacidosis (DKA) in individuals with severe dyslipidemia necessitates a comprehensive approach. While rehydration and continuous insulin infusion are fundamental components of DKA management due to the underlying ...
Ankit Shrestha, Prabin Kumar Bam, Aakash Pandit, Hari Shrestha, Melisha Koirala   +4 more
doaj   +1 more source

Hyperlipemia in renal disease [PDF]

, 1945
Thesis (M.D.)--Boston ...
Franklin, William
core  

A Matter of Principles: Empirical Treatments of Translation Principles – A Case Study [PDF]

, 2005
In this paper, the author will discuss findings of an investigation into the real life experiences of 21 trainee translators with two types of translation principles, one that is biased towards the source text and its author and the other biased towards ...
Zhong, Yong
core   +1 more source