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Items: 1 to 20 of 330

1.

Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome.

Lorber A, Gazit AZ, Khoury A, Schwartz Y, Mandel H.

Pediatr Cardiol. 2003 Sep-Oct;24(5):476-81. Review.

PMID:
14627317
2.

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.

Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, Szargel R, McDonald L, Shalata A, Nosaka K, Gregory S, Cohen N.

Nat Genet. 1999 Jul;22(3):300-4.

PMID:
10391221
3.

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity.

Raz T, Barrett T, Szargel R, Mandel H, Neufeld EJ, Nosaka K, Viana MB, Cohen N.

Hum Genet. 1998 Oct;103(4):455-61.

PMID:
9856490
4.

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.

Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD.

Nat Genet. 1999 Jul;22(3):309-12.

PMID:
10391223
5.

Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.

Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Fauré S, Barrett T, Buist N, Cohen N.

Am J Hum Genet. 1997 Dec;61(6):1335-41.

6.

Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy.

Meire FM, Van Genderen MM, Lemmens K, Ens-Dokkum MH.

Ophthalmic Genet. 2000 Dec;21(4):243-50.

PMID:
11135496
7.

The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.

Raz T, Labay V, Baron D, Szargel R, Anbinder Y, Barrett T, Rabl W, Viana MB, Mandel H, Baruchel A, Cayuela JM, Cohen N.

Hum Mutat. 2000;16(1):37-42.

PMID:
10874303
8.

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.

Fleming JC, Tartaglini E, Steinkamp MP, Schorderet DF, Cohen N, Neufeld EJ.

Nat Genet. 1999 Jul;22(3):305-8.

PMID:
10391222
9.

Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: report of two siblings.

Kurtoglu S, Hatipoglu N, Keskin M, Kendirci M, Akcakus M.

J Pediatr Endocrinol Metab. 2008 Apr;21(4):393-7.

PMID:
18556972
10.

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.

Am J Med Genet A. 2004 Mar 15;125A(3):299-305.

PMID:
14994241
11.

Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report.

Aycan Z, Baş VN, Cetinkaya S, Ağladioğlu SY, Kendirci HN, Senocak F.

J Pediatr Hematol Oncol. 2011 Mar;33(2):144-7. doi: 10.1097/MPH.0b013e31820030ae.

PMID:
21285901
12.

Unusual case of thiamine responsive megaloblastic anemia.

Tinsa F, Ben Amor S, Kaabachi N, Ben Lasouad M, Boussetta K, Bousnina S.

Tunis Med. 2009 Feb;87(2):159-63.

13.

Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome.

Valerio G, Franzese A, Poggi V, Tenore A.

Diabetes Care. 1998 Jan;21(1):38-41. Review.

PMID:
9538968
14.

Thiamine responsive megaloblastic anemia syndrome.

Ganesh R, Ezhilarasi S, Vasanthi T, Gowrishankar K, Rajajee S.

Indian J Pediatr. 2009 Mar;76(3):313-4. doi: 10.1007/s12098-009-0058-5. Epub 2009 Apr 6.

PMID:
19347672
15.

Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome?

Akın L, Kurtoğlu S, Kendirci M, Akın MA, Karakükçü M.

J Clin Res Pediatr Endocrinol. 2011;3(1):36-9. doi: 10.4274/jcrpe.v3i1.08. Epub 2011 Feb 23.

16.

Thiamine-responsive megaloblastic anemia syndrome.

Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F.

Int J Hematol. 2010 Oct;92(3):524-6. doi: 10.1007/s12185-010-0681-y. Epub 2010 Sep 11.

PMID:
20835854
17.

TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature.

Ozdemir MA, Akcakus M, Kurtoglu S, Gunes T, Torun YA.

Pediatr Diabetes. 2002 Dec;3(4):205-9.

PMID:
15016149
18.

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.

Pediatr Diabetes. 2013 Aug;14(5):384-7. doi: 10.1111/j.1399-5448.2012.00921.x. Epub 2013 Jan 4.

PMID:
23289844
19.

Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.

Onal H, Bariş S, Ozdil M, Yeşil G, Altun G, Ozyilmaz I, Aydin A, Celkan T.

Turk J Pediatr. 2009 May-Jun;51(3):301-4.

20.

Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport.

Neufeld EJ, Fleming JC, Tartaglini E, Steinkamp MP.

Blood Cells Mol Dis. 2001 Jan-Feb;27(1):135-8. Review.

PMID:
11358373
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