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Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency
Analyses of 19 amino acids, 38 acylcarnitines, and 3 creatine analogues (https://clir.mayo.edu) were implemented to test the hypothesis that succinic semialdehyde dehydrogenase deficiency (SSADHD) could be identified in dried bloodspots (DBS) using currently available newborn screening methodology....
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| Publié dans: | JIMD Rep |
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| Auteurs principaux: | , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
John Wiley & Sons, Inc.
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7203655/ https://ncbi.nlm.nih.gov/pubmed/32395407 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12075 |
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