Results 41 to 50 of about 3,665 (213)

Pharmaceutical compounding of orphan active ingredients in Belgium : how community and hospital pharmacists can address the needs of patients with rare diseases [PDF]

, 2019
Background: Pharmaceutical compounding of orphan active ingredients can offer cost-effective treatment to patients when no other drug product is available for a rare disease or during periods of drug product shortages.
Boussery, Koen, De Spiegeleer, Bart, Peeters, E, Remon, Jean Paul, Van Tongelen, Inge, Vanhoorne, Valérie, Vervaet, Chris, Wynendaele, Evelien   +7 more
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Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis [PDF]

, 2021
Cerebrotendinous xanthomatosis (CTX) is caused by autosomal recessive loss of function mutations in CYP27A1 resulting in altered bile acid and lipid metabolism.
Batta, Bavner, Berginer, Berginer, Bhattacharyya, Bindl, Bjorkhem, Björkhem, Cali, Chiang, Chiang, Crick, Crick, DeBarber, Duane, Duell, Ellis, Griffiths, Griffiths, Heverin, Kim, Li, Lutjohann, Lv, Mackay, Meaney, Nie, Piguet, Pilo de la Fuente, Popp, Radhakrishnan, Salen, Salen, Schols, Smith, Stelten, Theofilopoulos, Uhlen, Vaz   +38 more
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Unravelling new pathways of sterol metabolism [PDF]

, 2017
Purpose of reviewTo update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.Recent findingsPatients suffering from inborn errors of sterol biosynthesis, transport and ...
Björkhem, Boenzi, Boland, Griffiths, Griffiths, Griffiths, Griffiths, Guengerich, Jiang, Jones, Kannenberg, Mazzacuva, Noguer, Nury, Pajares, Pataj, Polo, Reunert, Romanello, Sever, Silvente-Poirot, Vanier, Vaz, Xu   +23 more
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Cerebellum: an explanation for dystonia? [PDF]

, 2017
Dystonia is a movement disorder that is characterized by involuntary muscle contractions, abnormal movements and postures, as well as by non-motor symptoms, and is due to abnormalities in different brain areas.
Berardelli, Alfredo, Bologna, Matteo
core   +1 more source

A preventable ataxia: Cerebrotendinous xanthomatosis

Annals of Indian Academy of Neurology, 2019
Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development ...
Bhagya Shaji, B Srikumar, Dileep Ramachandran   +2 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
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Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features. [PDF]

, 2023
Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of neurodegenerative disorders affecting primarily the cerebellum and/or its afferent tracts, often accompanied by damage of other neurological or extra-neurological systems. Due to
Bargagli, A., Lopergolo, D., Pretegiani, E., Rosini, F., Rufa, A., Serchi, V.   +5 more
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High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis.

Journal of Lipid Research, 1991
We measured the cholestanol, cholesterol precursor (lathosterol), and plant sterol (campesterol and sitosterol) concentrations of serum and bile in 11 patients with cerebrotendinous xanthomatosis.
M Kuriyama, J Fujiyama, T Kasama, M Osame   +3 more
doaj   +1 more source

Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis [PDF]

, 2011
Background Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. Neuromuscular abnormality and autonomic system (ANS) dysfuction in CTX are rarely examined in large-scale studies in the literature. We studied the peripheral nervous system,
A Federico, A Federico, A Kuritzky, A Ohnishi, A Oldfors, A Verrips, A Verrips, A Verrips, AK Bhattacharyya, CA Sewry, CC Chang, CC Chao, Cheng-Hsien Lu, Chi-Ren Huang, Chung-Chih Chang, CL Pan, CS Su, CT Shun, CT Shun, DA Katz, DJ Ewing, DJ Ewing, DM Sletten, G Devigili, G Gratze, G Parati, J Arpa, JD England, Joint Task Force of the EFNS and the PNS, KP Lin, M Ben Hamida, M Donaghy, M Mondelli, MH Moghadasian, MT Tseng, MT Tseng, Nai-Wen Tsai, NC Yang, PH Pop, PW Wang, R Geraldes, Shu-Fang Chen, TB Schuller, V Dubowitz, V Voiculescu, VM Berginer, Wen-Neng Chang, Yao-Chung Chuang, Z Argov, Z Wang   +49 more
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NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges. [PDF]

, 2021
The identification of neurological disorders by next-generation sequencing (NGS)-based gene panels has helped clinicians understand the underlying physiopathology, resulting in personalized treatment for some rare diseases.
Atallah, I., Benninger, D., Castro Jimenez, M., Good, J.M., Kuntzer, T., Superti-Furga, A., Tran, C.   +6 more
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