Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment

Cystathionine beta-synthase (CBS) deficient homocystinuria is an inherited metabolic defect that if untreated typically results in mental retardation, thromboembolism and a range of connective tissue disturbances. A knockout mouse model has previously been used to investigate pathogenic mechanisms i...

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Main Authors: Maclean, Kenneth N., Sikora, Jakub, Kožich, Viktor, Jiang, Hua, Greiner, Lori S., Kraus, Eva, Krijt, Jakub, Crnic, Linda S., Allen, Robert H., Stabler, Sally P., Elleder, Milan, Kraus, Jan P.
Formato: Artigo
Idioma:Inglês
Publicado em: Academic Press 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2954358/
https://ncbi.nlm.nih.gov/pubmed/20638882
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2010.06.007
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