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Items: 1 to 20 of 197

2.
3.

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.

PMID:
23289844
4.

Thiamine-responsive megaloblastic anemia syndrome: a novel mutation.

Yilmaz Agladioglu S, Aycan Z, Bas VN, Peltek Kendirci HN, Onder A.

Genet Couns. 2012;23(2):149-56.

PMID:
22876572
5.

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.

PMID:
19817279
6.

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
7.

Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia.

Poggi V, Rindi G, Patrini C, De Vizia B, Longo G, Andria G.

Eur J Pediatr. 1989 Jan;148(4):307-11.

PMID:
2540004
8.

Thiamine-responsive inborn errors of metabolism.

Duran M, Wadman SK.

J Inherit Metab Dis. 1985;8 Suppl 1:70-5. Review.

PMID:
3930844
9.

Thiamine-responsive megaloblastic anemia syndrome: long term follow-up.

Borgna-Pignatti C, Azzalli M, Pedretti S.

J Pediatr. 2009 Aug;155(2):295-7. doi: 10.1016/j.jpeds.2009.01.062.

PMID:
19619756
10.

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
11.

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
12.

Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes.

Liu G, Yang F, Han B, Liu J, Nie G.

Blood Cells Mol Dis. 2014 Apr;52(4):203-4. doi: 10.1016/j.bcmd.2013.11.002. No abstract available.

PMID:
24355766
13.

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.

PMID:
20835854
14.

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.

Ophthalmic Genet. 2014 Jun;35(2):119-24. doi: 10.3109/13816810.2013.793363.

PMID:
23638917
15.

Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2.

Wood MC, Tsiouris JA, Velinov M.

Psychiatry Clin Neurosci. 2014 Jun;68(6):487. doi: 10.1111/pcn.12143. No abstract available.

16.

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.

PMID:
19347672
17.

Cochlear implant and thiamine-responsive megaloblastic anemia syndrome.

Hagr AA.

Ann Saudi Med. 2014 Jan-Feb;34(1):78-80. doi: 10.5144/0256-4947.2014.78.

18.

Thiamine responsive megaloblastic anemia.

Mathews L, Narayanadas K, Sunil G.

Indian Pediatr. 2009 Feb;46(2):172-4.

19.

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
20.

Thiamine-responsive anemia in DIDMOAD syndrome.

Borgna-Pignatti C, Marradi P, Pinelli L, Monetti N, Patrini C.

J Pediatr. 1989 Mar;114(3):405-10.

PMID:
2537896

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