Transcobalamin deficiency: vitamin B12 deficiency with normal serum B12 levels
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DOI: 10.1136/bcr-2019-232319
Abstract: Transcobalamin (TC) deficiency is a rare autosomal recessive inborn error of cobalamin transport which clinically manifests in early infancy. We describe a child with TC deficiency who presented with classical clinical and lab stigmata of… read more here.
Keywords: serum b12; vitamin b12; normal serum; deficiency ... See more keywords