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Laboratory diagnostic approaches in metabolic disorders

The diagnosis of inborn errors of metabolism (IEM) takes many forms. Due to the implementation and advances in newborn screening (NBS), the diagnosis of many IEM has become relatively easy utilizing laboratory biomarkers. For the majority of IEM, early diagnosis prevents the onset of severe clinical...

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Detalles Bibliográficos
Publicado en:Ann Transl Med
Autores principales: Guerrero, Ruben Bonilla, Salazar, Denise, Tanpaiboon, Pranoot
Formato: Artigo
Lenguaje:Inglês
Publicado: AME Publishing Company 2018
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6331366/
https://ncbi.nlm.nih.gov/pubmed/30740401
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2018.11.05
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