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Volumn 87, Issue 2, 2009, Pages 159-163

Unusual case of thiamine responsive megaloblastic anemia

Author keywords

Child; Diabetes; Respiratory chain deficiency; Thiamine responsive megaloblastic anemia

Indexed keywords

GLUCOSE; HEMOGLOBIN; INSULIN; LACTIC ACID; PYRUVIC ACID; THIAMINE; TRANSFER RNA;

EID: 66549121700     PISSN: 00414131     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (8)

References (19)
  • 1
    • 0014493303 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 4
    • 0031660979 scopus 로고    scopus 로고
    • Thiamine-responsive myelodysplasia
    • Bazarbachi A, Muakkit S, Ayas M, et al. Thiamine-responsive myelodysplasia. Br J Haematol 1998; 104 :1098-1100.
    • (1998) Br J Haematol , vol.104 , pp. 1098-1100
    • Bazarbachi, A.1    Muakkit, S.2    Ayas, M.3
  • 5
    • 0034964939 scopus 로고    scopus 로고
    • 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
  • 6
    • 1242272746 scopus 로고    scopus 로고
    • SLC19: The folate/thiamine transporter family
    • Ganapathy V, Smith SB, Prasad PD. SLC19: the folate/thiamine transporter family. Pflugers Arch 2004; 447:641-6.
    • (2004) Pflugers Arch , vol.447 , pp. 641-646
    • Ganapathy, V.1    Smith, S.B.2    Prasad, P.D.3
  • 8
    • 0033105776 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.