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

Journal of inherited metabolic disease

Martina Huemer, Daria Diodato, Bernd Schwahn, …, Henk Blom, Matthias R Baumgartner, Carlo Dionisi-Vici

• DOI: 10.1007/s10545-016-9991-4
• PMID: 27905001
• PMCID: PMC5203859