Disease: Transcobalamin 2 deficiency
- "Macro transcobalamin causing raised vitamin B12: Case-based laboratory investigation"
- "Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene"
- 4-ethylphenyl-cobalamin impairs tissue uptake of vitamin B12 and causes vitamin B12 deficiency in mice
- A common <em>TCN1</em> loss-of-function variant is associated with lower vitamin B<sub>12</sub> concentration in African Americans
- A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B<sub>12</sub> status (cB<sub>12</sub>) and connects B<sub>12</sub> status with utilizati
- A micronutrient supplement modulates homocysteine levels regardless of vitamin B biostatus in elderly subjects
- A novel mutation of the transcobalamin II gene in an infant presenting with hemophagocytic lymphohistiocytosis
- A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency
- A Rapid Quantitative Chemiluminescence Immunoassay for Vitamin B12 in Human Serum
- An Analysis of Transcobalamin II Gene Polymorphisms and Serum Levels of Homocysteine, Folate and Vitamin B12 in Chinese Patients with Crohn's Disease
- An audit of holotranscobalamin ("Active" B12) and methylmalonic acid assays for the assessment of vitamin B12 status: application in a mixed patient population
- An International Standard for holotranscobalamin (holoTC): international collaborative study to assign a holoTC value to the International Standard for vitamin B12 and serum folate
- Assessment of cellular cobalamin metabolism in Gaucher disease
- Association of <em>TCN2</em> rs1801198 c.776G>C polymorphism with markers of one-carbon metabolism and related diseases: a systematic review and meta-analysis of genetic association studies
- Association of a transcobalamin II genetic variant with falsely low results for the holotranscobalamin immunoassay
- Association of Crohn's disease with transcobalamin Ⅱ gene polymorphisms and serum homocysteine, folate and vitamin B12 levels in Chinese patients
- Association of Transcobalamin II (TCN2) and Transcobalamin II-Receptor (TCblR) Genetic Variations With Cobalamin Deficiency Parameters in Elderly Women
- Association of transcobalamine II gene polymorphisms and serum homocysteine, vitamin B<sub>12</sub> and folate levels with ulcerative colitis among Chinese patients
- Association of ulcerative colitis with transcobalamin II gene polymorphisms and serum homocysteine, vitamin B<sub>12</sub>, and folate levels in Chinese patients
- Autistic traits and components of the folate metabolic system: an explorative analysis in the eastern Indian ASD subjects
- B vitamin polymorphisms and behavior: evidence of associations with neurodevelopment, depression, schizophrenia, bipolar disorder and cognitive decline
- Biochemical Identification of Vitamin B12 Deficiency in a Medical Office
- Clinical and genetic analysis of a child with transcobalamin II deficiency
- Clinical Utility of Serum Holotranscobalamin Measurements in Patients with First-Ever Ischemic Stroke
- CME - laboratory 41. Evaluating vitamin B12 status
- Combined indicator of vitamin B12 status: modification for missing biomarkers and folate status and recommendations for revised cut-points
- Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential
- Cross-sectional association between vitamin B12 status and probable postpartum depression in Indian women
- Daily milk intake improves vitamin B-12 status in young vegetarian Indians: an intervention trial
- Diagnostic Accuracy of Holotranscobalamin, Vitamin B12, Methylmalonic Acid, and Homocysteine in Detecting B12 Deficiency in a Large, Mixed Patient Population
- Diagnostic Characteristics of 3-Parameter and 2-Parameter Equations for the Calculation of a Combined Indicator of Vitamin B12 Status to Predict Cobalamin Deficiency in a Large Mixed Patient Population
- Diagnostic reliability of serum active B12 (holo-transcobalamin) in true evaluation of vitamin B12 deficiency: Relevance in current perspective
- Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey
- Does Metformin Treatment in Pediatric Population Cause Vitamin B12 Deficiency?
- Early changes in vitamin B12 uptake and biomarker status following Roux-en-Y gastric bypass and sleeve gastrectomy
- Effects of Prolonged Whey Protein Supplementation and Resistance Training on Biomarkers of Vitamin B12 Status: A 1-Year Randomized Intervention in Healthy Older Adults (the CALM Study)
- Elevated holo-transcobalamin in Gaucher disease type II: A case report
- Evidence review for diagnostic tests: Vitamin B12 deficiency in over 16s: diagnosis and management: Evidence review C
- False low holotranscobalamin levels in a patient with a novel TCN2 mutation
- FTY720 requires vitamin B<sub>12</sub>-TCN2-CD320 signaling in astrocytes to reduce disease in an animal model of multiple sclerosis
- Holotranscobalamin is not influenced by decreased renal function in elderly men: the MrOS Sweden study
- Homologous G776G Variant of <em>Transcobalamin-II</em> Gene is Linked to Vitamin B12 Deficiency
- Homologous G776G Variant of Transcobalamin-II Gene is Linked to Vitamin B12 Deficiency
- Identification of Patients with Cobalamin Deficiency Crucially Depends on the Diagnostic Strategy
- Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report
- Immunodeficiency and inborn disorders of vitamin B12 and folate metabolism
- Impact of vitamin B12 supplement intake cessation on vitamin B12 status in a healthy vegan: A close interval monitoring case study
- Influence of duration and dose of metformin on cobalamin deficiency in type 2 diabetes patients using metformin
- Interactions between plasma concentrations of folate and markers of vitamin B(12) status with cognitive performance in elderly people not exposed to folic acid fortification: the Hordaland Health Study
- Lack of Association Between MTHFR, MTR, MTRR, and TCN2 Genes and Nonsyndromic CL±P in a Chinese Population: Case-Control Study and Meta-Analysis
- Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations
- Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report
- Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency?
- Loss of the Vitamin B-12 Transport Protein Tcn2 Results in Maternally Inherited Growth and Developmental Defects in Zebrafish
- Low holo-transcobalamin levels are prevalent in vegetarians and is associated with coronary artery disease in Indian population
- Low holotranscobalamin and cobalamins predict incident fractures in elderly men: the MrOS Sweden
- Macro-B12 and Unexpectedly High Levels of Plasma B12: A Critical Review
- Maternal vitamin B12 deficiency detected in expanded newborn screening
- Measurement of total Transcobalamin employing a commercially available assay for Active B12
- Meat Consumption During Pregnancy and Substance Misuse Among Adolescent Offspring: Stratification of TCN2 Genetic Variants
- Monitoring Vitamin B<sub>12</sub> in Women Treated with Metformin for Primary Prevention of Breast Cancer and Age-Related Chronic Diseases
- Multicentre evaluation of the Roche Elecsys® Active B<sub>12</sub> (holotranscobalamin) electro-chemiluminescence immunoassay
- Neurological disorders in vitamin B12 deficiency
- New data supporting that early diagnosis and treatment are possible and necessary in intracellular cobalamin depletion: the case of transcobalamin II deficiency
- Novel Mutation in an Indian Patient with Transcobalamin II Deficiency
- Performance characteristics of the ARCHITECT Active-B12 (Holotranscobalamin) assay
- Prevalence and Risk Factors for Functional Vitamin B12 Deficiency in Patients with Crohn's Disease
- Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene
- Proton Pump Inhibitors, H2-Receptor Antagonists, Metformin, and Vitamin B-12 Deficiency: Clinical Implications
- Rapid healing of a patient with dramatic subacute combined degeneration of spinal cord: a case report
- Reference intervals and stability of haptocorrin and holotranscobalamin in Danish children and elderly
- Reference intervals for serum total vitamin B12 and holotranscobalamin concentrations and their change points with methylmalonic acid concentration to assess vitamin B12 status during early and mid-pregnancy
- Regulation of Hematopoiesis and Methionine Homeostasis by mTORC1 Inhibitor NPRL2
- Retinopathy of Transcobalamin II Deficiency: Long-Term Stability with Treatment
- Role of serum holotranscobalamin (holoTC) in the diagnosis of patients with low serum cobalamin. Comparison with methylmalonic acid and homocysteine
- Serum methylmalonic acid and holotranscobalamin-II as markers for vitamin B12 deficiency in end-stage renal disease patients
- Seven Patients With Transcobalamin Deficiency Diagnosed Between 2010 and 2014: A Single-Center Experience
- Subclinical maculopathy and retinopathy in transcobalamin deficiency: a 10-year follow-up
- The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation
- Transcobalamin 2 orchestrates monocyte proliferation and TLR4-driven inflammation in systemic lupus erythematosus via folate one-carbon metabolism
- Transcobalamin deficiency - a rare genetic defect in transportation of cobalamin; case report
- Transcobalamin deficiency: vitamin B(12) deficiency with normal serum B(12) levels
- Transcobalamin deficiency: vitamin B<sub>12</sub> deficiency with normal serum B<sub>12</sub> levels
- Transcobalamin II Deficiency in Four Cases with Novel Mutations
- Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature
- Trilineage dyspoiesis caused by transcobalamin II deficiency
- Update on transcobalamin deficiency: clinical presentation, treatment and outcome
- Vacuolization of large myeloid lineage and absence of erythroblast and megakaryocyte: Clues to the diagnosis of hereditary transcobalamin II deficiency
- Vitamin B-12-fortified toothpaste improves vitamin status in vegans: a 12-wk randomized placebo-controlled study
- Vitamin B(12) deficiency
- Vitamin B(12) Deficiency Dysregulates m6A mRNA Methylation of Genes Involved in Neurological Functions
- Vitamin B<sub>12</sub> deficiency
- Vitamin B<sub>12</sub> Deficiency Dysregulates m6A mRNA Methylation of Genes Involved in Neurological Functions
- Vitamin B12 and folate levels in healthy Swiss senior citizens: a prospective study evaluating reference intervals and decision limits
- Vitamin B12 deficiency
- Vitamin B12 deficiency after esophagectomy with gastric tube reconstruction for esophageal cancer
- Vitamin B12 status and the risk of developing sepsis in patients with bacterial infection: a prospective observational cohort study
- Vitamin B12 Status Upon Short-Term Intervention with a Vegan Diet-A Randomized Controlled Trial in Healthy Participants
- Vitamin B12-Related Biomarkers
- Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage
