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In newborn screenings where biochemical markers are indicative of vitamin B 12 deficiency, the diagnosis of inborn errors of vitamin B 12 metabolism is performed via functional studies on cultured fibroblasts isolated from skin biopsies (Watkins and Rosenblatt, 2013) or via molecular genetic analysis of putative genes

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The most common clinical manifestations are recurrent seizures associated with fever, usually occurring in the neonatal period, early infancy or early childhood

Alston CL, et al

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