Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism caused by fumarylacetoacetase deficiency. Biochemically, this results in accumulation of toxic metabolites including succinylacetone. Clinically, HT1 is characterized by severe liver, kidney, and neurological problems. Treatment with...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: van Vliet, Danique, van Dam, Esther, van Rijn, Margreet, Derks, Terry G. J., Venema-Liefaard, Gineke, Hitzert, Marrit M., Lunsing, Roelineke J., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4361924/
https://ncbi.nlm.nih.gov/pubmed/25256450
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_358
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