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

BACKGROUND: 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 cli...

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Detalles Bibliográficos
Autores principales: Martino, Francesco, Magenta, Alessandra, Troccoli, Maria Letizia, Martino, Eliana, Torromeo, Concetta, Putotto, Carolina, Barillà, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7941906/
https://www.ncbi.nlm.nih.gov/pubmed/33685478
http://dx.doi.org/10.1186/s13052-021-01007-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7941906/
https://www.ncbi.nlm.nih.gov/pubmed/33685478
http://dx.doi.org/10.1186/s13052-021-01007-6

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