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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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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Guerrero, Ruben Bonilla, Salazar, Denise, Tanpaiboon, Pranoot
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2018
Assuntos:
Acesso em linha: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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