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Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience
PURPOSE: Despite implementation of newborn screening (NBS), outcomes in cobalamin C disease (cblC) remain poor. Therapy with hydroxycobalamin and betaine is widely used, but dietary recommendations vary among metabolic centers. We present a longitudinal analysis of the relationship between metabolic...
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| Publicado en: | Genet Med |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2017
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6082364/ https://ncbi.nlm.nih.gov/pubmed/28151490 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.214 |
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