These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (PubMed ID: 28538514)

  • 1. Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations.
    Nashabat M; Maegawa G; Nissen PH; Nexo E; Al-Shamrani H; Al-Owain M; Alfadhel M
    J Pediatr Hematol Oncol; 2017 Nov; 39(8):e430-e436. PubMed ID: 28538514
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.
    Prasad C; Rosenblatt DS; Corley K; Cairney AE; Rupar CA
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S287-92. PubMed ID: 18956254
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Should transcobalamin deficiency be treated aggressively?
    Schiff M; Ogier de Baulny H; Bard G; Barlogis V; Hamel C; Moat SJ; Odent S; Shortland G; Touati G; Giraudier S
    J Inherit Metab Dis; 2010 Jun; 33(3):223-9. PubMed ID: 20352340
    [TBL] [Abstract][Full Text] [Related]  

  • 4. New data supporting that early diagnosis and treatment are possible and necessary in intracellular cobalamin depletion: the case of transcobalamin II deficiency.
    Verónica B; Crespo C; Lochner N; Rossetti E; Tagliavini C; Bouso C; Eiroa H
    J Pediatr Endocrinol Metab; 2024 Apr; 37(4):380-386. PubMed ID: 38436354
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.
    Kose E; Besci O; Gudeloglu E; Suncak S; Oymak Y; Ozen S; Isguder R
    J Pediatr Endocrinol Metab; 2020 Nov; 33(11):1487-1499. PubMed ID: 32841161
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey.
    Ünal S; Karahan F; Arıkoğlu T; Akar A; Kuyucu S
    Turk J Haematol; 2019 Feb; 36(1):37-42. PubMed ID: 30185401
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Transcobalamin deficiency - a rare genetic defect in transportation of cobalamin; case report.
    Iqbal N; Meghani MA; Khalid W; Ansari AH; Ansari MUH; Ansari SH
    Ann Hematol; 2024 Aug; 103(8):3243-3246. PubMed ID: 38976007
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Transcobalamin II Deficiency in Four Cases with Novel Mutations.
    Ünal Ş; Rupar T; Yetgin S; Yaralı N; Dursun A; Gürsel T; Çetin M
    Turk J Haematol; 2015 Dec; 32(4):317-22. PubMed ID: 25914105
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Transcobalamin II deficiency with methylmalonic aciduria in three sisters.
    Bibi H; Gelman-Kohan Z; Baumgartner ER; Rosenblatt DS
    J Inherit Metab Dis; 1999 Oct; 22(7):765-72. PubMed ID: 10518276
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.
    Zhan S; Cheng F; He H; Hu S; Feng X
    BMC Pediatr; 2020 Oct; 20(1):460. PubMed ID: 33023511
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Update on transcobalamin deficiency: clinical presentation, treatment and outcome.
    Trakadis YJ; Alfares A; Bodamer OA; Buyukavci M; Christodoulou J; Connor P; Glamuzina E; Gonzalez-Fernandez F; Bibi H; Echenne B; Manoli I; Mitchell J; Nordwall M; Prasad C; Scaglia F; Schiff M; Schrewe B; Touati G; Tchan MC; Varet B; Venditti CP; Zafeiriou D; Rupar CA; Rosenblatt DS; Watkins D; Braverman N
    J Inherit Metab Dis; 2014 May; 37(3):461-73. PubMed ID: 24305960
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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.
    Nissen PH; Nordwall M; Hoffmann-Lücke E; Sorensen BS; Nexo E
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S269-74. PubMed ID: 20607612
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of two mutant alleles of transcobalamin II in an affected family.
    Li N; Rosenblatt DS; Kamen BA; Seetharam S; Seetharam B
    Hum Mol Genet; 1994 Oct; 3(10):1835-40. PubMed ID: 7849710
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hereditary partial transcobalamin II deficiency with neurologic, mental and hematologic abnormalities in children and adults.
    Teplitsky V; Huminer D; Zoldan J; Pitlik S; Shohat M; Mittelman M
    Isr Med Assoc J; 2003 Dec; 5(12):868-72. PubMed ID: 14689755
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Subclinical maculopathy and retinopathy in transcobalamin deficiency: a 10-year follow-up.
    Rigaudière F; Nasser H; Delouvrier E; Milani P; Schiff M
    Doc Ophthalmol; 2022 Feb; 144(1):53-65. PubMed ID: 34491492
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Congenital disorders of vitamin B12 transport and their contributions to concepts. II.
    Hall CA
    Yale J Biol Med; 1981; 54(6):485-95. PubMed ID: 7342493
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Association of Transcobalamin II (TCN2) and Transcobalamin II-Receptor (TCblR) Genetic Variations With Cobalamin Deficiency Parameters in Elderly Women.
    Kurnat-Thoma EL; Pangilinan F; Matteini AM; Wong B; Pepper GA; Stabler SP; Guralnik JM; Brody LC
    Biol Res Nurs; 2015 Jul; 17(4):444-54. PubMed ID: 25657319
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report.
    Martino F; Magenta A; Troccoli ML; Martino E; Torromeo C; Putotto C; Barillà F
    Ital J Pediatr; 2021 Mar; 47(1):54. PubMed ID: 33685478
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Homologous G776G Variant of
    Al-Batayneh KM; Salim Al Zoubi M; Al-Trad B; Hussein E; Al Khateeb W; Aljabali AAA; Bodoor K; Shehab M; Al Hamad MA; Eaton GJ; Cornelison CT
    Int J Vitam Nutr Res; 2020 Jan; 90(1-2):151-155. PubMed ID: 30761942
    [No Abstract]   [Full Text] [Related]  

  • 20. Transcobalamin II deficiency at birth.
    Ratschmann R; Minkov M; Kis A; Hung C; Rupar T; Mühl A; Fowler B; Nexo E; Bodamer OA
    Mol Genet Metab; 2009 Nov; 98(3):285-8. PubMed ID: 19581117
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.