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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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發表在:Genet Med
Main Authors: Ahrens-Nicklas, Rebecca C., Whitaker, Ashley M., Kaplan, Paige, Cuddapah, Sanmati, Burfield, Jessica, Blair, Jennifer, Brochi, Ligia, Yudkoff, Marc, Ficicioglu, Can
格式: Artigo
語言:Inglês
出版: 2017
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在線閱讀: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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