Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result
The Iowa Newborn Screening (NBS) Program began screening for very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) in 2003. Untreated VLCAD can lead to liver failure, heart failure, and death. Current confirmatory testing recommendations by the American College of Medical Genetics (ACMG) for VLC...
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| Main Authors: | , , , |
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| Format: | Text |
| Language: | English |
| Published: |
Springer Berlin Heidelberg
2019
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| Subjects: | |
| Online Access: | https://pmc.ncbi.nlm.nih.gov/articles/PMC6754489/ https://pubmed.ncbi.nlm.nih.gov/30721391 http://dx.doi.org/10.1007/s12687-019-00409-8 |
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