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Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Priestley JRC, Pace LM, Sen K, Aggarwal A, Alves CAPF, Campbell IM, Cuddapah SR, Engelhardt NM, Eskandar M, Jolín García PC, Gropman A, Helbig I, Hong X, Gowda VK, Lusk L, Trapane P, Srinivasan VM, Suwannarat P, Ganetzky RD. Priestley JRC, et al. Among authors: ganetzky rd. Mol Genet Metab Rep. 2022 Nov 16;33:100931. doi: 10.1016/j.ymgmr.2022.100931. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36420423 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: ganetzky rd. 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.
Mitochondrial Hepatopathies.
Alharbi H, Priestley JRC, Wilkins BJ, Ganetzky RD. Alharbi H, et al. Among authors: ganetzky rd. Clin Liver Dis (Hoboken). 2021 Jul 22;18(5):243-250. doi: 10.1002/cld.1133. eCollection 2021 Nov. Clin Liver Dis (Hoboken). 2021. PMID: 34840726 Free PMC article. Review. No abstract available.
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestley JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah SR, Edmondson A, Ficicioglu C, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Campbell IM, Sheppard SE. Szigety KM, et al. Pediatrics. 2022 Jul 1;150(1):e2021054520. doi: 10.1542/peds.2021-054520. Pediatrics. 2022. PMID: 35642503 Free PMC article.
73 results