Results 41 to 50 of about 5,605 (209)

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

Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis

Frontiers in Pediatrics, 2020
Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation of toxic metabolites in various organs, particularly in brain and tendons.
Irene Degrassi, Chiara Amoruso, Giuseppe Giordano, Marina Del Puppo, Andrea Mignarri, Maria Teresa Dotti, Mauro Naturale, Gabriella Nebbia   +7 more
doaj   +1 more source

Cerebrotendinous xanthomatosis and infertility: A case report

Clinical Case Reports, 2022
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder that causes neurological, ophthalmic, vascular, and musculoskeletal disorders due to the deposition of cholesterol in the tissues.
Narges Karimi, Zahra Amiri, Sima Naeini, Ali Asghar Okhovat   +3 more
doaj   +1 more source

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
core   +2 more sources

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]

, 2014
Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève, Helman, Guy, Leventer, Richard J., McNeill, Nathan H., on behalf of the GLIA Consortium, Parikh, Sumit, Patterson, Marc C., Pizzino, Amy, Rizzo, William B., Schmidt, Johanna L., Simons, Cas, Taft, Ryan J., van der Knaap, Marjo S., van Hove, Johan, Vanderver, Adeline   +14 more
core   +2 more sources

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
core   +1 more source

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
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

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

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