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

• Główni autorzy: Jessica R. C. Priestley (Autor), Hana Alharbi (Autor), Katharine Press Callahan (Autor), Herodes Guzman (Autor), Irma Payan-Walters (Autor), Ligia Smith (Autor), Can Ficicioglu (Autor), Rebecca D. Ganetzky (Autor), Rebecca C. Ahrens-Nicklas (Autor)
• Format: Książka
• Wydane: MDPI AG, 2020-05-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

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...