Article
Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Mar 2009
Gupta Sapna, Kühnisch Jirko, Mustafa Aladdin, Lhotak Sarka, Schlachterman Alexander, Slifker Michael J, Klein-Szanto Andres, High Katherine A, Austin Richard C, Kruger Warren D
Abstract excerpt
Untreated cystathionine beta-synthase (CBS) deficiency in humans is characterized by extremely elevated plasma total homocysteine (tHcy>200 microM), with thrombosis as the major cause of morbidity. Treatment with vitamins and diet leads to a dramatic reduction in thrombotic events, even though patients often still have severe elevations in tHcy (>80 microM). To understand the difference between extreme and severe...
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