Study Stresses Importance of Early Treatment for Different Mutations

Study Stresses Importance of Early Treatment for Different Mutations

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Study Stresses Importance of Early Treatment for Different Mutations

A better understanding of Pompe disease-causing genetic mutations may help with early treatment intervention, even if symptoms are subtle, a small Hungarian study suggests. Researchers found that the precise localization of a mutation determines the impact on GAA enzyme activity, which in turn has been associated with disease onset. Their study, “Correlation of GAA genotype and acid-α-glucosidase enzyme activity in Hungarian patients with Pompe disease,” was published in the journal Life. Pompe disease is caused…

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