Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis
Orphanet Journal of Rare Diseases, 2019 Background Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have
Qing-Qing Tao +5 more
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The role of the lymphatic system in cholesterol transport [PDF]
, 2015 Reverse cholesterol transport (RCT) is the pathway for removal of peripheral tissue cholesterol and involves transport of cholesterol back to liver for excretion, starting from cellular cholesterol efflux facilitated by lipid-free apolipoprotein A1 ...
Andrew Elvington +2 more
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Side-chain oxidized oxysterols as metabolic regulators in liver and brain [PDF]
, 2014 Oxysterols are oxygenated derivatives of cholesterol characterized by a very short half-life and their ability to pass lipophilic membranes easily, thus they are considered as important intermediates in cholesterol excretion pathways and its ...
Ali, Zeina M. F.
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Investigation of \u3cem\u3ede novo\u3c/em\u3e cholesterol synthetic capacity in the gonads of goldfish (\u3cem\u3eCarassius auratus\u3c/em\u3e) exposed to the phytosterol beta-sitosterol [PDF]
, 2006 Total and intra-mitochondrial gonadal cholesterol concentrations are decreased in fish exposed to the phytoestrogen beta-sitosterol (beta-sit). The present study examined the potential for beta-sit to disrupt de novo cholesterol synthesis in the gonads ...
Drolet, Melissa +2 more
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Journal of Lipid Research, 1985 Tissue sterol composition was determined in an 18-year-old male with sitosterolemia with xanthomatosis who died suddenly and whose coronary and aortic vessels showed extensive atherosclerosis and, for comparison, in an 18-year-old male with minimal ...
G Salen +9 more
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Tendon xanthomas as indicators of atherosclerotic burden on coronary arteries
Indian Heart Journal, 2013 The presence of tendon xanthomas is an almost certain indicator of familial hypercholesterolemia (FH). They also reflect coronary atherosclerotic burden and therefore must be treated aggressively.
Shivanand Patil +3 more
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Cerebrotendinous xanthomatosis [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 2003 G, Castelnovo, L, Jomir, S, Bouly
openaire +2 more sources
The skin and internal disease : the importance of looking beyond the skin [PDF]
, 2006 The skin is the largest organ in the human body. It has important 'local' roles such as protecting internal structures from potentially harmful factors in the environment but in addition is very much an integral part of the body and has a complex ...
Boffa, Michael
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Miscellanea. Levelek a szerkesztőhöz. Folyóirat-referátumok. Beszámoló [PDF]
, 2015 Levelek a szerkesztőhöz. Burn-out... a nagy veszély? | Folyóirat-referátumok. Hypertonia Álcázott stressz okozta magasvérnyomás-betegség (Masked stress-induced arterial hypertension) [Article in German] Middeke, M., Goss, F. (Hypertoniezentrum
Apor, Péter +4 more
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Cholesterol, Atherosclerosis and Coronary Disease in the UK, 1950–2000. [PDF]
, 2006 Annotated and edited transcript of a Witness Seminar held on 8 March 2005. Introduction by Dr Nick Myant, Hammersmith Hospital, London.First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2006.
REYNOLDS, LA, Tansey, EM
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