Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I

Fumarylacetoacetate hydrolase (FAH) is the fifth enzyme in the tyrosine catabolism pathway. A deficiency in human FAH leads to hereditary tyrosinemia type I (HT1), an autosomal recessive disorder that results in the accumulation of toxic metabolites such as succinylacetone, maleylacetoacetate, and f...

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Detalles Bibliográficos
Autores principales: Gil-Martínez, Jon, Macias, Iratxe, Unione, Luca, Bernardo-Seisdedos, Ganeko, Lopitz-Otsoa, Fernando, Fernandez-Ramos, David, Lain, Ana, Sanz-Parra, Arantza, Mato, José M, Millet, Oscar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7916972/
https://www.ncbi.nlm.nih.gov/pubmed/33670179
http://dx.doi.org/10.3390/ijms22041789

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7916972/
https://www.ncbi.nlm.nih.gov/pubmed/33670179
http://dx.doi.org/10.3390/ijms22041789

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