Results 81 to 90 of about 5,602 (181)
A Case of Hyper IgD and Periodic Fever Syndrome in Japan
We report a four-year-old Japanese girl with hyper IgD and periodic fever syndrome. There is a first report of hyper IgD syndrome (HIDS) of which the genomic study was done in Japan.
Hisashi Kawashima M.D.,Ph.D. +7 more
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Quantitation of plasma mevalonic acid using gas chromatography-electron capture mass spectrometry.
Circulating concentrations of mevalonic acid (MVA) change in parallel with, and may be used as a marker of cholesterol biosynthesis. Plasma MVA levels have been quantified using a sensitive and specific capillary gas chromatography-electron capture mass ...
A Scoppola +4 more
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HMG-CoA reductase is not the site of the primary defect in phytosterolemia
Phytosterolemia is an autosomal recessive disorder characterized by the excessive absorption, reduced excretion, and consequent high tissue and plasma levels of plant sterols, by the presence of tendon xanthomas, and by premature atherosclerosis. Low HMG-
G.M.B. Berger +9 more
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Novel compound heterozygous MVK variants cause early-onset mevalonic aciduria in a Chinese infant
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disorder caused by mevalonate kinase (MVK) gene mutations, with phenotypes ranging from mild hyper-IgD syndrome (HIDS) to severe mevalonic aciduria (MA).
Na Li +3 more
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Effect on callus growth was studied for Citrus grandis cultured with feeding of exogenous mevalonic acid (MVA) at concentrations of 0.04, 0.08, 0.38, 0.77, 1.15 and 1.54 mM.
ZARINA ZAKARiA +2 more
doaj
. The effects of cholesterol (Ch) diet, i.p. administration of mevalonic acid (Mev) and their combined application upon nitric oxide (NO) production in peritoneal macrophages, as well as upon biochemical characteristics of kidney function derangements ...
Ya. Sh. Schwarz +3 more
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Origin of esterified cholesterol transported in the very low density lipoproteins of human plasma
In two subjects the specific activity of esterified cholesterol in plasma lipoprotein subfractions was measured for up to 9 hr after an intravenous injection of [3H]mevalonic acid.
Philip J. Barter
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The role of circulating mevalonate in nephrotic hypercholesterolemia in the rat.
The cause of the hypercholesterolemia that characterizes the nephrotic syndrome has never been adequately explained. The present study examines the possibility that enhanced availability of the cholesterol precursor, mevalonic acid, to the liver in the ...
T A Golper +3 more
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Biosynthesis of Mevalonic Acid in Blakeslea trispora. [PDF]
Lars Björk +5 more
openaire +2 more sources
UNDERGROUND COMMUNICATION – THE NEW ELEMENTS OF SIGNALLING PATHWAYS OF ARBUSCULAR MYCORRHIZAL SYMBIOSIS [PDF]
Katarzyna Jas, Urszula Małolepsza
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