The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

Tyrosinemia type I (TT1) is an inborn error of tyrosine metabolism with features including liver dysfunction, cirrhosis, and hepatocellular carcinoma; renal dysfunction that may lead to failure to thrive and bone disease; and porphyric crises. Once fatal in most infantile-onset cases, pre-symptomati...

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Detaylı Bibliyografya
Yayımlandı:Int J Neonatal Screen
Asıl Yazarlar: Priestley, Jessica R. C., Alharbi, Hana, Callahan, Katharine Press, Guzman, Herodes, Payan-Walters, Irma, Smith, Ligia, Ficicioglu, Can, Ganetzky, Rebecca D., Ahrens-Nicklas, Rebecca C.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI 2020
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7422996/
https://ncbi.nlm.nih.gov/pubmed/32832707
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6020039
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