Article

Long-term Outcome of a Patient With Transcobalamin Deficiency Caused by Tcn2 Mutation: A Case Report

2020-07-16

Abstract excerpt

<h4>Background: </h4> Transcobalamin deficiency is a rare autosomal recessive inborn error of cobalamin transport (prevalence: <1/1000000)whichclinically 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 died...

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Literature Corpus work: fb58ff1f-87ac-5a0a-a819-e06aa27ae442
DOI: 10.21203/rs.3.rs-39634/v1

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