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Transcobalamin deficiency: vitamin B(12) deficiency with normal serum B(12) levels
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 inborn error of vitamin B(12) metabolism except normal serum...
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| Gepubliceerd in: | BMJ Case Rep |
|---|---|
| Hoofdauteurs: | , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BMJ Publishing Group
2019
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6827761/ https://ncbi.nlm.nih.gov/pubmed/31666257 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-232319 |
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