Publications by authors named "E Morava"

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Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction.
J Ganesh, C Donnelly, A Ligezka, G Preston, E Morava

Mol Genet Metab· November 2025

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Corrigendum to "Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]".
Andrew C Edmondson, Tomas Honzik, Christina Lam, Katrin Ounap, Peter McWilliams, Eva Morava

Mol Genet Metab· November 2025

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Counseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak Landscape.
Ibrahim Elsharkawi, Amy Goldstein, Rebecca D Ganetzky, Eva Morava

Pediatr Neurol· November 2025

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Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.
Rory J Tinker, Neil Jacob, Mohammad Ghouse Syed, Janhawi Kelkar, Colleen Donnelly, Eva Morava

medRxiv· October 2025

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Resolving Hexose-Phosphates by LC-MS Leads to New Insights in PGM1-CDG Pathophysiology.
Karen Driesen, Sam De Craemer, Eva Morava, David Cassiman, Peter Witters

ACS Omega· September 2025

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