194 related articles for article (PubMed ID: 22876572)
21. 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]
22. Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood.
Olsen BS; Hahnemann JM; Schwartz M; Østergaard E
Pediatr Diabetes; 2007 Aug; 8(4):239-41. PubMed ID: 17659067
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. Rare case with megaloblastic anaemia.
Saleem M; Shah SS; Mehmood T
J Ayub Med Coll Abbottabad; 2014; 26(1):104-5. PubMed ID: 25358233
[TBL] [Abstract][Full Text] [Related]
26. Thiamine responsive megaloblastic anemia: the puzzling phenotype.
Beshlawi I; Al Zadjali S; Bashir W; Elshinawy M; Alrawas A; Wali Y
Pediatr Blood Cancer; 2014 Mar; 61(3):528-31. PubMed ID: 24249281
[TBL] [Abstract][Full Text] [Related]
27. Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.
Ghaemi N; Ghahraman M; Abbaszadegan MR; Baradaran-Heravi A; Vakili R
J Clin Res Pediatr Endocrinol; 2013 Sep; 5(3):199-201. PubMed ID: 24072090
[TBL] [Abstract][Full Text] [Related]
28. Five years followup of diabetes mellitus in two siblings with thiamine responsive megaloblastic anemia.
Bappal B; Nair R; Shaikh H; AI Khusaiby SM; de Silva V
Indian Pediatr; 2001 Nov; 38(11):1295-8. PubMed ID: 11721072
[No Abstract] [Full Text] [Related]
29. Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child.
Khurshid A; Fatimah S; Altaf C; Malik HS; Sajjad Z; Khadim MT
J Coll Physicians Surg Pak; 2018 Sep; 28(9):S169-S171. PubMed ID: 30173687
[TBL] [Abstract][Full Text] [Related]
30. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
Odaman-Al I; Gezdirici A; Yıldız M; Ersoy G; Aydoğan G; Şalcıoğlu Z; Tahtakesen TN; Önal H; Küçükemre-Aydın B
Turk J Pediatr; 2019; 61(2):257-260. PubMed ID: 31951336
[TBL] [Abstract][Full Text] [Related]
31. Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.
Manimaran P; Subramanian VS; Karthi S; Gandhimathi K; Varalakshmi P; Ganesh R; Rathinavel A; Said HM; Ashokkumar B
Clin Chim Acta; 2016 Jan; 452():44-9. PubMed ID: 26549656
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest.
Dua V; Yadav SP; Kumar V; Khan AA; Puri R; Verma I; Flanagan SE; Ellard S; Sachdeva A
Pediatr Blood Cancer; 2013 Jul; 60(7):1242-3. PubMed ID: 23512295
[No Abstract] [Full Text] [Related]
34. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
Odaman-Al I; Gezdirici A; Yıldız M; Ersoy G; Aydoğan G; Şalcıoğlu Z; Tahtakesen TN; Önal H; Küçükemre-Aydın B
Turk J Pediatr; 2019; 61(2):257-260. PubMed ID: 31951337
[TBL] [Abstract][Full Text] [Related]
35. A rare case of thiamine-responsive megaloblastic anaemia syndrome: a disorder of high-affinity thiamine transport.
Naeem MA; Shabaz A; Shoaib A; Usman M
J Ayub Med Coll Abbottabad; 2008; 20(3):146-8. PubMed ID: 19610542
[TBL] [Abstract][Full Text] [Related]
36. Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome.
Wu S; Yuan Z; Sun Z; Yao F; Sui R
Am J Med Genet A; 2022 Mar; 188(3):948-952. PubMed ID: 34821467
[TBL] [Abstract][Full Text] [Related]
37. Thiamine responsive megaloblastic anemia syndrome.
Ganesh R; Ezhilarasi S; Vasanthi T; Gowrishankar K; Rajajee S
Indian J Pediatr; 2009 Mar; 76(3):313-4. PubMed ID: 19347672
[TBL] [Abstract][Full Text] [Related]
38. An Adult Case of Thiamine-Sensitive Megaloblastic Anemia Syndrome Accidentally Diagnosed Myelodysplastic Syndrome.
Kutlucan A
J Coll Physicians Surg Pak; 2019 Jun; 29(6):S13-S15. PubMed ID: 31142407
[TBL] [Abstract][Full Text] [Related]
39. Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families.
Ricketts CJ; Minton JA; Samuel J; Ariyawansa I; Wales JK; Lo IF; Barrett TG
Acta Paediatr; 2006 Jan; 95(1):99-104. PubMed ID: 16373304
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]