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Published in 2022 at "Journal of Neurology"
DOI: 10.1007/s00415-022-11129-4
Abstract: Cobalamin C (CblC) deficiency (alias methylmalonic aciduria and homocystinuria, CblC type, OMIM # 277,400) is the most common inborn error of intracellular cobalamin metabolism. The onset is usually in the first year of life [1],…
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Keywords:
syndrome myoclonus;
deficiency;
cblc deficiency;
epileptic syndrome ... See more keywords