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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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| Publicado no: | FASEB J |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Federation of American Societies for Experimental Biology
2017
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| Assuntos: | |
| 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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