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Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism
Timely newborn screening and genetic profiling are crucial in early recognition and treatment of inborn errors of metabolism (IEMs). A proposed nosology of IEMs has inserted 1,015 well-characterized IEMs causing alterations in specific metabolic pathways. With the increasing expansion of metabolomic...
Gardado en:
| Publicado en: | Ann Transl Med |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
AME Publishing Company
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6174193/ https://ncbi.nlm.nih.gov/pubmed/30306077 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2018.09.18 |
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