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

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The Mthfr / mice were with none MTHFR enzyme activity in all tissues, whereas the Mthfr +/ showed 60% residual activity, similar to the value observed in patients homozygous for the C667T polymorphism 40