Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency
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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],… read more here.
Keywords: syndrome myoclonus; deficiency; cblc deficiency; epileptic syndrome ... See more keywords