Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2016.214
Abstract: 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… read more here.
Keywords: metabolic control; efficacy early; newborn screening; cobalamin disease ... See more keywords
Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature
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DOI: 10.1101/mcs.a006179
Abstract: Cobalamin C disease is the most common complementation class of cobalamin disorders. Here, we present a case of a 14-yr-old male with early-onset cblC disease and autism spectrum disorder (ASD) admitted to our inpatient medical… read more here.
Keywords: cobalamin disease; disease; neurodevelopmental neuropsychiatric; cblc disease ... See more keywords