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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422996/
https://www.ncbi.nlm.nih.gov/pubmed/32832707
http://dx.doi.org/10.3390/ijns6020039

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