Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future
Inborn errors of metabolism are inherited biochemical disorders caused by lack of a functional enzyme, transmembrane transporter, or similar protein, which then results in blockage of the corresponding metabolic pathway. Taken individually, inborn errors of metabolism are rare. However, as a group t...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
PAGEPress Publications
2013-04-01
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| Series: | La Pediatria Medica e Chirurgica |
| Subjects: | |
| Online Access: | http://www.pediatrmedchir.org/index.php/pmc/article/view/42 |