Pending Bill in PA Supports Newborn Testing for Krabbe Syndrome
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Hannah's Law would establish mandatory newborn testing for a rare but serious metabolic disease called Krabbe Syndrome.
Metabolic and Advanced Diagnostics News and Updates
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Galactosemia Quantitation Now Available
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Determination of galactose-1-phosphate uridyltransferase (Gal-1-PUT) activity by tandem mass spectrometry is now available at the Palmieri Metabolic Disease Laboratory at CHOP.
Newborn Screening to Transform Treatments for Genetic Diseases
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A pediatric research project plans to strategically expand the data collection linked to newborn screening results, aiming to open up broad opportunities to develop new ways to screen for and treat childhood diseases.