322 related articles for article (PubMed ID: 23638917)
21. 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
Am J Med Genet A; 2015 Jul; 167(7):1605-9. PubMed ID: 25707023
[TBL] [Abstract][Full Text] [Related]
22. Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.
Zhang S; Qiao Y; Wang Z; Zhuang J; Sun Y; Shang X; Li G
Clin Chim Acta; 2021 May; 516():157-168. PubMed ID: 33571483
[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. 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]
26. 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]
27. 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]
28. 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. PubMed ID: 11135496
[TBL] [Abstract][Full Text] [Related]
29. Thiamine transporter mutation: an example of monogenic diabetes mellitus.
Alzahrani AS; Baitei E; Zou M; Shi Y
Eur J Endocrinol; 2006 Dec; 155(6):787-92. PubMed ID: 17132746
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. 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]
32. Thiamine responsive megaloblastic anemia.
Mathews L; Narayanadas K; Sunil G
Indian Pediatr; 2009 Feb; 46(2):172-4. PubMed ID: 19242038
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family.
Amr K; Pawlikowska P; Aoufouchi S; Rosselli F; El-Kamah G
Mol Genet Genomic Med; 2019 Jul; 7(7):e00777. PubMed ID: 31144472
[TBL] [Abstract][Full Text] [Related]
35. Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
Shaw-Smith C; Flanagan SE; Patch AM; Grulich-Henn J; Habeb AM; Hussain K; Pomahacova R; Matyka K; Abdullah M; Hattersley AT; Ellard S
Pediatr Diabetes; 2012 Jun; 13(4):314-21. PubMed ID: 22369132
[TBL] [Abstract][Full Text] [Related]
36. Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia.
Bouyahia O; Ouderni M; Ben Mansour F; Matoussi N; Khaldi F
Ann Endocrinol (Paris); 2009 Dec; 70(6):477-9. PubMed ID: 19922902
[TBL] [Abstract][Full Text] [Related]
37. The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.
Enogieru OJ; Koleske ML; Vora B; Ngo H; Yee SW; Chatad D; Sirota M; Giacomini KM
AAPS J; 2021 Mar; 23(2):35. PubMed ID: 33649974
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.
Mohsen-Pour N; Naderi N; Ghasemi S; Hesami M; Maleki M; Kalayinia S
Lab Med; 2022 Nov; 53(6):640-650. PubMed ID: 35686496
[TBL] [Abstract][Full Text] [Related]
40. 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. PubMed ID: 20835854
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]