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Shwachman-Diamond syndrome mimicking mitochondrial hepatopathy.
Kaufman O, Donnelly C, Cork E, Fiel MI, Chu J, Ganesh J. Kaufman O, et al. Among authors: donnelly c. JPGN Rep. 2024 Mar 13;5(2):213-217. doi: 10.1002/jpr3.12064. eCollection 2024 May. JPGN Rep. 2024. PMID: 38756125 Free PMC article.
PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death.
Genthe W, Donnelly C, Ezon D, Fettig V, Ganesh J, Marin-Valecia I, Gelb BD. Genthe W, et al. Among authors: donnelly c. JACC Case Rep. 2023 Sep 20;24:102024. doi: 10.1016/j.jaccas.2023.102024. eCollection 2023 Oct 18. JACC Case Rep. 2023. PMID: 37869221 Free PMC article.