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Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening
Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the treatable diseases. The objective of this study was to evaluate the contribution of targeted metabolic testing for diagnosing suspected IMDs...
Kaydedildi:
| Yayımlandı: | Sci Rep |
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| Asıl Yazarlar: | , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group UK
2019
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6773867/ https://ncbi.nlm.nih.gov/pubmed/31575911 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-50518-0 |
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