Article

Long-term Outcome of a Patient With Transcobalamin Deficiency Caused by the Homozygous c.1115_1116delCA Mutation in TCN2 Gene: a Case Report

2021-01-18

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 31 years 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...

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Literature Corpus work: fcbbecf7-0db8-5742-82ee-d58593fff9b8
DOI: 10.21203/rs.3.rs-146696/v1

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