Article

Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report

2020-11-19

Abstract excerpt

<h4>Background: </h4> Transcobalamin deficiency is a rare autosomal recessive inborn error of cobalamin transport (prevalence: <1/1000000) which clinically manifests in early infancy. Case presentation: We describe the case of a 30 year old woman who at the age of 30 days presented with the classical clinical and laboratory signs of an inborn error of vitamin B 12 metabolism. Family history revealed a sister who d...

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Literature Corpus work: 9471b107-3c46-5191-a49d-10acdd8ad4ba
DOI: 10.21203/rs.3.rs-110600/v1

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