Similar articles for PMID: 23289844

Year	Number of Results
1978	1
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1

Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.

Mozzillo E, Melis D, Falco M, Fattorusso V, Taurisano R, Flanagan SE, Ellard S, Franzese A. Mozzillo E, et al. Pediatr Diabetes. 2013 Aug;14(5):384-7. doi: 10.1111/j.1399-5448.2012.00921.x. Epub 2013 Jan 4. Pediatr Diabetes. 2013. PMID: 23289844

2

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.

Li X, Cheng Q, Ding Y, Li Q, Yao R, Wang J, Wang X. Li X, et al. BMC Pediatr. 2019 Jul 11;19(1):233. doi: 10.1186/s12887-019-1608-2. BMC Pediatr. 2019. PMID: 31296181 Free PMC article.

3

Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.

Setoodeh A, Haghighi A, Saleh-Gohari N, Ellard S, Haghighi A. Setoodeh A, et al. Gene. 2013 May 1;519(2):295-7. doi: 10.1016/j.gene.2013.02.008. Epub 2013 Feb 20. Gene. 2013. PMID: 23454484 Free PMC article.

4

Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.

Srikrupa NN, Meenakshi S, Arokiasamy T, Murali K, Soumittra N. Srikrupa NN, et al. Ophthalmic Genet. 2014 Jun;35(2):119-24. doi: 10.3109/13816810.2013.793363. Epub 2013 May 2. Ophthalmic Genet. 2014. PMID: 23638917

5

Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.

Lagarde WH, Underwood LE, Moats-Staats BM, Calikoglu AS. Lagarde WH, et al. Am J Med Genet A. 2004 Mar 15;125A(3):299-305. doi: 10.1002/ajmg.a.20506. Am J Med Genet A. 2004. PMID: 14994241

6

Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations.

Pichler H, Zeitlhofer P, Dworzak MN, Diakos C, Haas OA, Kager L. Pichler H, et al. Eur J Pediatr. 2012 Nov;171(11):1711-5. doi: 10.1007/s00431-012-1730-8. Epub 2012 May 11. Eur J Pediatr. 2012. PMID: 22576805

7

Thiamine-responsive megaloblastic anemia syndrome: a novel mutation.

Yilmaz Agladioglu S, Aycan Z, Bas VN, Peltek Kendirci HN, Onder A. Yilmaz Agladioglu S, et al. Genet Couns. 2012;23(2):149-56. Genet Couns. 2012. PMID: 22876572

8

Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.

Katipoğlu N, Karapinar TH, Demir K, Aydin Köker S, Nalbantoğlu Ö, Ay Y, Korkmaz HA, Oymak Y, Yıldız M, Tunç S, Hazan F, Vergin C, Ozkan B. Katipoğlu N, et al. Arch Argent Pediatr. 2017 Jun 1;115(3):e153-e156. doi: 10.5546/aap.2017.eng.e153. Arch Argent Pediatr. 2017. PMID: 28504500 Free article. English, Spanish.

9

Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.

Mikstiene V, Songailiene J, Byckova J, Rutkauskiene G, Jasinskiene E, Verkauskiene R, Lesinskas E, Utkus A. Mikstiene V, et al. Am J Med Genet A. 2015 Jul;167(7):1605-9. doi: 10.1002/ajmg.a.37015. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25707023

10

First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.

Pomahačová R, Zamboryová J, Sýkora J, Paterová P, Fiklík K, Votava T, Černá Z, Jehlička P, Lád V, Šubrt I, Dort J, Dortová E. Pomahačová R, et al. Pediatr Diabetes. 2017 Dec;18(8):844-847. doi: 10.1111/pedi.12479. Epub 2016 Dec 22. Pediatr Diabetes. 2017. PMID: 28004468

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