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Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers

28 Aug 2015

Abstract excerpt

Lysosomal storage diseases (LSDs), lysosomal enzyme deficiencies causing multi-system organ damage, have come to the forefront in newborn screening (NBS) initiatives due to new screening technologies and emerging treatments. We developed a qualitative discussion tool to explore opinions of genetic healthcare providers (HCPs) regarding population-based NBS for MPS types 1 and 2, Pompe, Gaucher, Fabry, and Krabbe...

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PMID: 26315880
DOI: 10.1007/s10897-015-9879-8

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