185 related articles for article (PubMed ID: 21285901)
1. 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. PubMed ID: 21285901
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 23638917
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 22876572
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 10391223
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 23289844
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 10391221
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 24355766
[No Abstract] [Full Text] [Related]
8. 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. PubMed ID: 24520986
[No Abstract] [Full Text] [Related]
9. 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; 51(3):301-4. PubMed ID: 19817279
[TBL] [Abstract][Full Text] [Related]
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
Pediatr Diabetes; 2017 Dec; 18(8):844-847. PubMed ID: 28004468
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.
Yeşilkaya E; Bideci A; Temizkan M; Kaya Z; Camurdan O; Koç A; Bozkaya D; Koçak U; Cinaz P
J Trop Pediatr; 2009 Aug; 55(4):265-7. PubMed ID: 18614593
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 10874303
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 10391222
[TBL] [Abstract][Full Text] [Related]
14. Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
Akbari MT; Zare Karizi S; Mirfakhraie R; Keikhaei B
Eur J Pediatr; 2014 Dec; 173(12):1663-5. PubMed ID: 24357267
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 15016149
[TBL] [Abstract][Full Text] [Related]
16. 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
Arch Argent Pediatr; 2017 Jun; 115(3):e153-e156. PubMed ID: 28504500
[TBL] [Abstract][Full Text] [Related]
17. 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; 27(1):135-8. PubMed ID: 11358373
[TBL] [Abstract][Full Text] [Related]
18. 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
BMC Pediatr; 2019 Jul; 19(1):233. PubMed ID: 31296181
[TBL] [Abstract][Full Text] [Related]
19. 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
Eur J Pediatr; 2012 Nov; 171(11):1711-5. PubMed ID: 22576805
[TBL] [Abstract][Full Text] [Related]
20. 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
Gene; 2013 May; 519(2):295-7. PubMed ID: 23454484
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]