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The biochemical characterization allowed identifying not less than 442 variants of the deficiency of the enzyme
Free Radic Biol Med 44 , 723738, doi: 10.1016/j.freeradbiomed.2007.11.004 (2008)
Accurate coding reduces claim rejections, supports regulatory compliance, and ensures that healthcare organizations can report conditions consistently across payers, regions, and healthcare networks
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