Results 61 to 70 of about 5,139 (246)
Biomedicines, 2023 Cerebrotendinous xanthomatosis (CTX) is a genetic disorder of the cholesterol metabolic pathway, most often associated with variants in the CYP27A1 gene.
Petar Brlek +8 more
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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
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
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Highly sensitive analysis of sterol profiles in human serum by LC-ESI-MS/MSs⃞
Journal of Lipid Research, 2008 We have developed a highly sensitive and specific method for the analysis of serum sterol profiles. Sterols in 1 μl of dried serum were derivatized into picolinyl esters (3β-picolinate) and analyzed by liquid chromatography-tandem mass spectrometry (LC ...
Akira Honda +8 more
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Seasonal survey of the composition and degradation state of particulate organic matter in the Rhône River using lipid tracers [PDF]
, 2015 International audienceLipid tracers including fatty acids, hydroxyacids, n-alkanols, sterols and triterpenoids were used to determine the origin and fate of suspended particulate organic matter (POM) collected in the Rhône River (France).
Amiraux, Remi +8 more
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Journal of Lipid Research, 2001 Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid biosynthesis. Clinically, CTX patients present with tendon xanthomas, juvenile cataracts, and progressive neurological dysfunction and can be diagnosed by the ...
Mi-Hye Lee +7 more
doaj +1 more source
The ecdysteroidome of Drosophila: influence of diet and development [PDF]
, 2015 Ecdysteroids are the hormones regulating development, physiology and fertility in arthropods, which synthesize them exclusively from dietary sterols. But how dietary sterol diversity influences the ecdysteroid profile, how animals ensure the production ...
Carvalho, M. +6 more
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Case Report: Cerebrotendinous xanthomatosis
Indian Journal of Radiology and Imaging, 2009 Cerebrotendinous xanthomatosis is a rare genetic disorder. We present and discuss the clinical, radiological, and histopathologic findings in a 36-year-old woman who had juvenile cataract, childhood diarrhea, mental retardation, cerebellar ataxia, and ...
Amit A Karandikar +3 more
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Gristhorpe Man: an Early Bronze Age log-coffin burial scientifically defined [PDF]
, 2010 A log-coffin excavated in the early nineteenth century proved to be well enough preserved in the early twenty-first century for the full armoury of modern scientific investigation to give its occupants and contents new identity, new origins and a new ...
Batt, Cathy +21 more
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Analysis of phytosterols in foods [PDF]
, 2006 Phytosterols are bioactive compounds, one of their most studied and outstanding properties being their cholesterol-lowering activity. This explains the growing interest in the phytosterol contents of foods as either intrinsic or added components.
Farré Rovira, Rosaura +2 more
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