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...

Full description

Saved in:
Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: 2017
Subjects:
Article
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items