Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Italian journal of pediatrics - 8 Mar 2021

Martino Francesco, Magenta Alessandra, Troccoli Maria Letizia, Martino Eliana, Torromeo Concetta, Putotto Carolina, Barillà Francesco

Abstract excerpt

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 clinical and laboratory signs of an inborn error of vitamin B12 metabolism. Family history revealed a sister who died at...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Mutation
Share to Transcobalamins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Vitamin B 12 Deficiency

Source

Open in PubMed Open full text

Identifiers

PMID: 33685478
DOI: 10.1186/s13052-021-01007-6
PMCID: PMC7941906

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report.PMID 33685478Read ↗

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

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

Long-term Outcome of a Patient With Transcobalamin Deficiency Caused by Tcn2 Mutation: A Case ReportSemantic proximity Read ↗

Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations.Semantic proximity Read ↗

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.Semantic proximity Read ↗

Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.Semantic proximity Read ↗

"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".Semantic proximity Read ↗

Should transcobalamin deficiency be treated aggressively?Semantic proximity Read ↗

Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.Semantic proximity Read ↗

A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency.Semantic proximity Read ↗

A novel mutation of the transcobalamin II gene in an infant presenting with hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: a study of two affected siblings, their brother, and their parents.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.