Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

2017
Background Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteineto methionineleads to accumulation of homocysteineand perturbation of numerous methylation reactions.
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