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Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Zielonka M, et al. Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30. Ann Clin Transl Neurol. 2019. PMID: 31469252 Free PMC article.
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.
Priestley JRC, Alharbi H, Callahan KP, Guzman H, Payan-Walters I, Smith L, Ficicioglu C, Ganetzky RD, Ahrens-Nicklas RC. Priestley JRC, et al. Among authors: payan walters i. Int J Neonatal Screen. 2020 Jun;6(2):39. doi: 10.3390/ijns6020039. Epub 2020 May 16. Int J Neonatal Screen. 2020. PMID: 32832707 Free PMC article.