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Possible genetic causes of IMPA Whole exome sequencing, performed on a proband with IMPA, her younger sibling, and parents, identified deleterious variants in genes critical to the Fibroblast Growth Factor 21 (FGF21) signaling pathway (FGFR1 and KLB) in both the proband and her younger sibling
5 Conclusion MIRI remains a critical clinical challenge, largely driven by oxidative stress
Healthy mitochondrial function may support glutathione recycling* NAD+ is essential for mitochondrial efficiency
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DOI: 10.1002/cbf.1149
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