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A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.
Mol Genet Metab. 2010 Oct-Nov;101(2-3):153-62. doi: 10.1016/j.ymgme.2010.06.010. Epub 2010 Jun 23.
Mol Genet Metab. 2010.
PMID: 20638879
Free PMC article.
Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: implications for the diagnosis and follow-up of serine biosynthesis disorders.
Moat S, Carling R, Nix A, Henderson M, Briddon A, Prunty H, Talbot R, Powell A, Wright K, Fuchs S, de Koning T.
Moat S, et al.
Mol Genet Metab. 2010 Oct-Nov;101(2-3):149-52. doi: 10.1016/j.ymgme.2010.07.006. Epub 2010 Jul 15.
Mol Genet Metab. 2010.
PMID: 20692860
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