Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists
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DOI: 10.1186/s13023-022-02179-y
Abstract: Background Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive disease, whose biochemical hallmarks are hyperhomocysteinemia, methylmalonic aciduria and low plasma methionine. Despite being… read more here.
Keywords: cblc deficiency; adult; diagnosis; disease ... See more keywords