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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...

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Detalles Bibliográficos
Publicado en:Ann Transl Med
Main Authors: Mussap, Michele, Zaffanello, Marco, Fanos, Vassilios
Formato: Artigo
Idioma:Inglês
Publicado: AME Publishing Company 2018
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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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