메뉴 건너뛰기




Volumn 38, Issue 11, 2001, Pages 1295-1298

Five years followup of diabetes mellitus in two siblings with thiamine responsive megaloblastic anemia

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; GENE PRODUCT; INSULIN; INSULIN ZINC SUSPENSION; THIAMINE;

EID: 0035192879     PISSN: 00196061     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (17)

References (9)
  • 1
  • 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, Schorderet DF, Cohen N, Newfeld EJ. 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    Schorderet, D.F.4    Cohen, N.5    Newfeld, E.J.6
  • 5
    • 0022387391 scopus 로고
    • Diabetes mellitus, thiamine dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutartae dehydrogenase activity
    • Abound MR, Alexander D, Najjar SS. Diabetes mellitus, thiamine dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutartae dehydrogenase activity. J Pediatr 1985; 107: 537-541.
    • (1985) J Pediatr , vol.107 , pp. 537-541
    • Abound, M.R.1    Alexander, D.2    Najjar, S.S.3
  • 6
    • 0028556544 scopus 로고
    • Further studies on erythrocyte thiamine transport and phosphorylation in seven patients with thiamine responsive megaloblastic anemia
    • Rindi G, Patrini C, Laforenza U, Mendel H, Bernat M, Viana MB, et al. Further studies on erythrocyte thiamine transport and phosphorylation in seven patients with thiamine responsive megaloblastic anemia. J Inher Metab Dis 1994; 17: 667-677.
    • (1994) J Inher Metab Dis , vol.17 , pp. 667-677
    • Rindi, G.1    Patrini, C.2    Laforenza, U.3    Mendel, H.4    Bernat, M.5    Viana, M.B.6
  • 7
    • 0032990411 scopus 로고    scopus 로고
    • Mutations in SLC19A2 cause thiamine-responsive megaloblastic anemia associated with diabetes mellitus and deafness
    • Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, et al. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anemia 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    Mandel, H.4    Williams, H.5    Barrett, T.6
  • 8
    • 0034454115 scopus 로고    scopus 로고
    • Acute ischemic stroke in a young woman with the thiamine responsive megaloblastic anemia syndrome
    • Valeria V, Angela R, Di Sallec F, Ciro I, Vincenzo P, Brunella C. Acute ischemic stroke in a young woman with the thiamine responsive megaloblastic anemia syndrome. J Clin Endoc Metab 2000; 85: 947-949.
    • (2000) J Clin Endoc Metab , vol.85 , pp. 947-949
    • Valeria, V.1    Angela, R.2    Di Sallec, F.3    Ciro, I.4    Vincenzo, P.5    Brunella, C.6
  • 9
    • 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, Sakamoto M, Cohen N, Neufeld EJ. Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. J Clin Invest 1999; 103: 723-729.
    • (1999) J Clin Invest , vol.103 , pp. 723-729
    • Stagg, A.R.1    Fleming, J.C.2    Baker, M.A.3    Sakamoto, M.4    Cohen, N.5    Neufeld, E.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.