Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing
In the last two decades, the introduction of tandem mass spectrometry in clinical laboratories has enabled simultaneous testing of numerous acylcarnitines and amino acids from dried blood spots for detecting many aminoacidopathies, organic acidurias and fatty acid oxidation disorders. The expanded n...
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| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Book |
| Published: |
Sciendo,
2020-10-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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