Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
Two Norwegian patients with chronic tyrosinemia type I showed > 50% residual fumarylacetoacetase activity in liver samples obtained during liver transplantation. The enzyme characteristics of both patients were comparable with those of a normal control. Immunohistochemistry on liver sections from th...
Bewaard in:
| Gepubliceerd in: | J Clin Invest |
|---|---|
| Hoofdauteurs: | , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
American Society for Clinical Investigation
1993
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC288163/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8473520/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116393 |
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