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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書誌詳細
出版年:JIMD Rep
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Springer Berlin Heidelberg 2014
主題:
Article
オンライン･アクセス: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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