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Participant
The concern about potential false negatives is valid. The study acknowledges that enzyme activity measurements can be influenced by sample handling and storage conditions. However, standardized protocols were followed to minimize variability, and quality controls were in place to ensure reliable enzyme activity readings.
I also have a question:
Did the study assess any correlations between enzyme activity levels and genetic variants in suspected cases? Including such an analysis could help differentiate between true GD cases, carriers, and potential false negatives.