Homocystinuria
We have compared in vivo pyridoxine responsiveness with in vitro cystathionine β-synthase activity in extracts of confluent fibroblasts from 14 synthase-deficient patients. Enzyme activity was measured with and without addition of its cofactor, pyridoxal-5′-phosphate, using a radioisotopic assay whi...
Guardat en:
| Publicat a: | J Clin Invest |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
1978
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC372577/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/641146/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI108976 |
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