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Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning

Inborn errors of metabolism (IEM) are genetic disorders in which specific enzyme defects interfere with the normal metabolism of exogenous (dietary) or endogenous protein, carbohydrate, or fat. In the U.S., many IEM are detected through state newborn screening (NBS) programs. To inform research on I...

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Main Authors: Therrell, Bradford L., Lloyd-Puryear, Michele A., Camp, Kathryn M., Mann, Marie Y.
Formato: Artigo
Idioma:Inglês
Publicado: 2014
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4177968/
https://ncbi.nlm.nih.gov/pubmed/25085281
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.07.009
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