Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon
In October 2018, the Oregon newborn screening program began screening for four lysosomal storage disorders (LSDs) Pompe, Mucopolysaccharidosis Type I (MPSI), Gaucher, and Fabry. The laboratory used two different methodologies, digital microfluidics and tandem mass spectrometry, to measure the four L...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426925000369 |
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