141 related articles for article (PubMed ID: 23512295)
21. 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]
22. 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]
23. 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]
24. 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]
25. 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]
26. Cochlear implant and thiamine-responsive megaloblastic anemia syndrome.
Hagr AA
Ann Saudi Med; 2014; 34(1):78-80. PubMed ID: 24658560
[TBL] [Abstract][Full Text] [Related]
27. Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Habeb AM; Flanagan SE; Zulali MA; Abdullah MA; Pomahačová R; Boyadzhiev V; Colindres LE; Godoy GV; Vasanthi T; Al Saif R; Setoodeh A; Haghighi A; Haghighi A; Shaalan Y; ; Hattersley AT; Ellard S; De Franco E
Diabetologia; 2018 May; 61(5):1027-1036. PubMed ID: 29450569
[TBL] [Abstract][Full Text] [Related]
28. Thiamine-responsive megaloblastic anaemia.
Veetil VM; Pachat D; Nikitha K; Kutty JM
Natl Med J India; 2023; 36(5):314-315. PubMed ID: 38759983
[TBL] [Abstract][Full Text] [Related]
29. Thiamine responsive megaloblastic anemia in three Indian children.
Raju K N Gowda V; Shivananda GM; Sankhyan N
Indian J Pediatr; 2011 Jul; 78(7):888-9. PubMed ID: 21340725
[No Abstract] [Full Text] [Related]
30. [Defect of thiamine transport and activation and related disease].
Xian X; Lin F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Feb; 35(1):121-124. PubMed ID: 29419877
[TBL] [Abstract][Full Text] [Related]
31. 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; 125A(3):299-305. PubMed ID: 14994241
[TBL] [Abstract][Full Text] [Related]
32. Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice.
Oishi K; Hofmann S; Diaz GA; Brown T; Manwani D; Ng L; Young R; Vlassara H; Ioannou YA; Forrest D; Gelb BD
Hum Mol Genet; 2002 Nov; 11(23):2951-60. PubMed ID: 12393806
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity.
Abboud MR; Alexander D; Najjar SS
J Pediatr; 1985 Oct; 107(4):537-41. PubMed ID: 4045602
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. [Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review].
Lu H; Lu H; Vaucher J; Tran C; Vollenweider P; Castioni J
Rev Med Interne; 2019 Jan; 40(1):20-27. PubMed ID: 30031565
[TBL] [Abstract][Full Text] [Related]
37. Arrhythmia in thiamine responsive megaloblastic anemia syndrome.
Argun M; Baykan A; Hatipoğlu N; Akın L; Şahin Y; Narin N; Kurtoğlu S
Turk J Pediatr; 2018; 60(3):348-351. PubMed ID: 30511554
[TBL] [Abstract][Full Text] [Related]
38. Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D; Sabir A; Fulton P; Zatyka M; Williams D; Hardy C; Milan G; Favaretto F; Yu-Wai-Man P; Rohayem J; López de Heredia M; Hershey T; Tranebjaerg L; Chen JH; Chaussenot A; Nunes V; Marshall B; McAfferty S; Tillmann V; Maffei P; Paquis-Flucklinger V; Geberhiwot T; Mlynarski W; Parkinson K; Picard V; Bueno GE; Dias R; Arnold A; Richens C; Paisey R; Urano F; Semple R; Sinnott R; Barrett TG
Hum Mutat; 2017 Jul; 38(7):764-777. PubMed ID: 28432734
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.
Moulin V; Grandoni F; Castioni J; Lu H
BMJ Case Rep; 2018 Jun; 2018():. PubMed ID: 29903777
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]