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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
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 |
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