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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...

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Опубликовано в::J Clin Invest
Главные авторы: Kvittingen, E A, Rootwelt, H, Brandtzaeg, P, Bergan, A, Berger, R
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Clinical Investigation 1993
Предметы:
Online-ссылка: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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