Biomolecules · 2 authors, 3 centres
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The authors describe common and rare genetic disorders affecting redox metabolism, noting that the review covers the most significant genes involved while acknowledging that numerous upstream metabolic pathway enzymes could also impact these functions.
The authors describe common and rare genetic disorders affecting redox metabolism, noting that the review covers the most significant genes involved while acknowledging that numerous upstream metabolic pathway enzymes could also impact these functions. The authors note that comprehensive re-analysis of proprietary diagnostic databases might identify further patients to strengthen weak genotype-phenotype links, improving both rare disease diagnostics and basic biochemical research.
