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Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12171
Abstract: Cobalamin C (cblC) defect is the most common inherited disorder of cobalamin metabolism. Developmental delay, behavioral problems, and maculopathy are common, but they have not been systematically investigated. The aim of this study was to…
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Keywords:
neurodevelopmental characterization;
early neurodevelopmental;
age;
characterization children ... See more keywords