-
1
-
-
0014493303
-
Thiamine-responsive megaloblastic anemia
-
Rogers LE, Porter FS , Sidbury JB, Thiamine-responsive megaloblastic anemia. J Ped 1969;74: 494-504.
-
(1969)
J Ped
, vol.74
, pp. 494-504
-
-
Rogers, L.E.1
Porter, F.S.2
Sidbury, J.B.3
-
2
-
-
0033064140
-
The gene mutated in thiamine responsive anemia with diabetes and deafness encodes a functional thiamine transporter
-
Fleming JC, Tartaglini E, Steinkamp MP, et al. The gene mutated in thiamine responsive anemia with diabetes and deafness encodes a functional thiamine transporter. Nat Genet 1999; 22: 305-308.
-
(1999)
Nat Genet
, vol.22
, pp. 305-308
-
-
Fleming, J.C.1
Tartaglini, E.2
Steinkamp, M.P.3
-
3
-
-
0032990411
-
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness
-
Labay V, Raz T, Baron D, et al . Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet 1999; 22: 300-304.
-
(1999)
Nat Genet
, vol.22
, pp. 300-304
-
-
Labay, V.1
Raz, T.2
Baron, D.3
-
5
-
-
0034964939
-
A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine- responsive megaloblastic anaemia, diabetes and deafness syndrome
-
Gritli S, Omar S, Tartaglini E, et al. A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine- responsive megaloblastic anaemia, diabetes and deafness syndrome. Br J Haematol 2001; 113:508-513.
-
(2001)
Br J Haematol
, vol.113
, pp. 508-513
-
-
Gritli, S.1
Omar, S.2
Tartaglini, E.3
-
8
-
-
0033105776
-
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts
-
Stagg AR, Fleming JC, Baker MA, et al. Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. J Clin Invest 1999; 103: 723-9.
-
(1999)
J Clin Invest
, vol.103
, pp. 723-729
-
-
Stagg, A.R.1
Fleming, J.C.2
Baker, M.A.3
-
9
-
-
33846018896
-
Thiamine transporter mutation: An example of monogenic diabetes mellitus
-
Alzahrani AS, Baitei E, Zou- M, Shi Y. Thiamine transporter mutation: an example of monogenic diabetes mellitus. Eur J Endocrinol 2006; 155: 787-792.
-
(2006)
Eur J Endocrinol
, vol.155
, pp. 787-792
-
-
Alzahrani, A.S.1
Baitei, E.2
Zou-, M.3
Shi, Y.4
-
10
-
-
0034454115
-
Acute ischemic in a young woman with the thiamine-responsive megaloblastic anemia syndrome
-
Villa V, Rivellese A, Di Salle F, et al. Acute ischemic in a young woman with the thiamine-responsive megaloblastic anemia syndrome. J Clin Endocrinol Metab 2000; 85: 947-949.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 947-949
-
-
Villa, V.1
Rivellese, A.2
Di Salle, F.3
-
11
-
-
0035192879
-
Five years follow up of diabetes mellitus in two siblings with thiamine responsive megaloblastic anemia
-
Bappal B, Nair R, Shaikh H, et al. Five years follow up of diabetes mellitus in two siblings with thiamine responsive megaloblastic anemia. Indian Pediatr 2001; 38: 1295-1298.
-
(2001)
Indian Pediatr
, vol.38
, pp. 1295-1298
-
-
Bappal, B.1
Nair, R.2
Shaikh, H.3
-
12
-
-
29944432489
-
Thiamine-responsive megaloblastic anaemia syndrome: Long-term follow-up and mutation analysis of seven families
-
Ricketts CJ, Minton JA, Samuel J, et al. Thiamine-responsive megaloblastic anaemia syndrome: Long-term follow-up and mutation analysis of seven families. Acta Paediatr 2006; 95: 99-104.
-
(2006)
Acta Paediatr
, vol.95
, pp. 99-104
-
-
Ricketts, C.J.1
Minton, J.A.2
Samuel, J.3
-
13
-
-
0042522661
-
Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome
-
Lober A, Gazit AZ, Khoury A, Schwartz Y, et al. Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome. Pediatr Cardiol 2003; 24: 476-48.
-
(2003)
Pediatr Cardiol
, vol.24
, pp. 476-548
-
-
Lober, A.1
Gazit, A.Z.2
Khoury, A.3
Schwartz, Y.4
-
14
-
-
34347236918
-
Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: Mechanism and regulation
-
Subramanian VS, Mohammed ZM, Molina A, et al. Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation. J Physiol 2007; 582: 73-85.
-
(2007)
J Physiol
, vol.582
, pp. 73-85
-
-
Subramanian, V.S.1
Mohammed, Z.M.2
Molina, A.3
-
15
-
-
33645817948
-
Pediatric stroke associated with new onset type 1 diabetes mellitus: Case reports and review of the literature
-
Ho J, Mah JK, Hill MD. Pediatric stroke associated with new onset type 1 diabetes mellitus: case reports and review of the literature. Pediatr Diabetes 2006; 7 :116-121.
-
(2006)
Pediatr Diabetes
, vol.7
, pp. 116-121
-
-
Ho, J.1
Mah, J.K.2
Hill, M.D.3
-
16
-
-
0033832914
-
A novel mutation in the thiamine responsive megaloblastic anemia gene SLC19A2 in a patient with deficiency of respiratory chain complexl
-
Scharfe C, Hauschild M, Klopstock T, et al. A novel mutation in the thiamine responsive megaloblastic anemia gene SLC19A2 in a patient with deficiency of respiratory chain complexl. J Med Genet 2000; 37 :669-673.
-
(2000)
J Med Genet
, vol.37
, pp. 669-673
-
-
Scharfe, C.1
Hauschild, M.2
Klopstock, T.3
-
17
-
-
0026906885
-
Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
-
Van den Ouweland JMW, Lemkes HHPJ, Ruittenbeek W, et al. Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992; 1: 368-71.
-
(1992)
Nat Genet
, vol.1
, pp. 368-371
-
-
Van Den Ouweland, J.M.W.1
Lemkes, H.H.P.J.2
Ruittenbeek, W.3
-
18
-
-
0026462744
-
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
-
Reardon W, Ross RJM, Sweeney MG, et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992; 340:1376-9.
-
(1992)
Lancet
, vol.340
, pp. 1376-1379
-
-
Reardon, W.1
Ross, R.J.M.2
Sweeney, M.G.3
-
19
-
-
0023182889
-
Computed tomography and angiography in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes); report of 3 cases
-
Hasuo P, Tamura S, Yasumori K, et al. Computed tomography and angiography in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes); report of 3 cases. Neuroradiology 1987; 29:393-397.
-
(1987)
Neuroradiology
, vol.29
, pp. 393-397
-
-
Hasuo, P.1
Tamura, S.2
Yasumori, K.3
|