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NewsHHSFriday, August 15, 2025 · August 15, 2025

Newborn Screening Expands to Include More Rare Diseases

WHY IT MATTERS

Earlier detection means earlier treatment. Could transform outcomes for thousands of newborns.

The Advisory Committee recommended adding Duchenne MD and Pompe disease to the Recommended Uniform Screening Panel.

Read the original at HHS
DiagnosisNIH

Related conditions

Glycogen storage disease due to acid maltase deficiencyGlycogen storage disease due to acid maltase deficiency, infantile onsetDuchenne muscular dystrophyGlycogen storage disease due to acid maltase deficiency, late-onset

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