Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening
Inborn errors of metabolism (IEMs) are a group of inherited genetic conditions that, in general, result from a specific enzyme defect. Clinical consequences caused by abnormal enzyme levels often disrupt affected metabolic pathways and their intermediary metabolites. Because diagnostic outcomes depe...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI AG
2026-06-01
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| Col·lecció: | Diagnostics |
| Matèries: | |
| Accés en línia: | https://www.mdpi.com/2075-4418/16/11/1717 |
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