Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria

Classical homocystinuria (HCU) is an inborn error of sulfur amino acid metabolism caused by deficient activity of cystathionine β-synthase (CBS), resulting in an accumulation of homocysteine and a concomitant decrease of cystathionine and cysteine in blood and tissues. In mice, the complete lack of...

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Detalhes bibliográficos
Publicado no:FASEB J
Main Authors: Majtan, Tomas, Hůlková, Helena, Park, Insun, Krijt, Jakub, Kožich, Viktor, Bublil, Erez M., Kraus, Jan P.
Formato: Artigo
Idioma:Inglês
Publicado em: Federation of American Societies for Experimental Biology 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5690381/
https://ncbi.nlm.nih.gov/pubmed/28821635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1096/fj.201700565R
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