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Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model

Homocystinuria, which typically results from cystathionine β-synthase (CBS) deficiency, is the most common defect of sulfur amino acid metabolism. CBS condenses homocysteine and serine to cystathionine that is then converted to cysteine. Individuals with homocystinuria have markedly elevated plasma...

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Publicat a:J Clin Invest
Autors principals: Bublil, Erez M., Majtan, Tomas, Park, Insun, Carrillo, Richard S., Hůlková, Helena, Krijt, Jakub, Kožich, Viktor, Kraus, Jan P.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4887166/
https://ncbi.nlm.nih.gov/pubmed/27183385
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI85396
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