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JIMD Reports|June 30, 2026
JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial-Immune CrosstalkDan Ross Brooks, Hyun Yong Koh, Taylor Martin Kerrins, et al.JIMD Reports|September 7, 2018
Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal HyperammonemiaKatherine Taylor Wild, Rebecca D Ganetzky, Marc Yudkoff, et al.JIMD Reports|August 24, 2026
Irritable Bowel Disease: Think Malonic and Methylmalonic Aciduria (CMAMMA)!Khaled Alatibi, Martin J Hug, Sara TucciJIMD Reports|September 8, 2026
Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic OvershadowingKarla Cifuentes-Uribe, Sandrine Girard, Roseline Froissart, et al.Pageof 127