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
Macro-B12 masking B12 deficiency
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-247660
Abstract: In clinical practice, the finding of an elevated serum B12 concentration is often the consequence of supplementation with B12 in either oral form or injections. Also, elevated serum B12 may be associated with underlying disorders,… read more here.
Keywords: serum b12; b12; macro b12; elevated serum ... See more keywords