메뉴 건너뛰기




Volumn 1998, Issue 303, 1998, Pages 45-48

Manifestations hématologiques des anomalies congénitales des folates et des cobalamines

Author keywords

Cbl mutant; Fragmented red cells; Intrinsic factor; Pure red cell aplasia; Tetrahydrofolate; Transcobalamin II

Indexed keywords


EID: 22244447086     PISSN: 03389898     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0338-9898(98)80067-X     Document Type: Article
Times cited : (4)

References (21)
  • 2
    • 0025346413 scopus 로고
    • Vitamin B12 and folate deficiency presenting as leukaemia
    • Dokal I.S., Cox T.M., Galton D.A.G., Vitamin B12 and folate deficiency presenting as leukaemia, Br. Med. J. 300 (1990) 1263-1264.
    • (1990) Br. Med. J. , vol.300 , pp. 1263-1264
    • Dokal, I.S.1    Cox, T.M.2    Galton, D.A.G.3
  • 3
    • 0000526332 scopus 로고
    • Inherited disorders of cobalamin transport and metabolism
    • Scriver C. R Baudet A.L., Sly W.S., Valle D. (Eds), New York, Mc Graw-Hill Inc
    • Fenton W.A., Rosenberg L.E., Inherited disorders of cobalamin transport and metabolism, in : Scriver C. R Baudet A.L., Sly W.S., Valle D. (Eds), The metabolic and molecular basis of inherited diseases,. New York, Mc Graw-Hill Inc, 1995, pp. 3129-3149.
    • (1995) The Metabolic and Molecular Basis of Inherited Diseases , pp. 3129-3149
    • Fenton, W.A.1    Rosenberg, L.E.2
  • 5
    • 0001601083 scopus 로고
    • Selective vitamin B12 malabsorption and proteinuria in young people
    • Grasbeck R., Gordin R., Kantero I., Selective vitamin B12 malabsorption and proteinuria in young people, Acta Med. Scand. 167 (1960) 289-296.
    • (1960) Acta Med. Scand. , vol.167 , pp. 289-296
    • Grasbeck, R.1    Gordin, R.2    Kantero, I.3
  • 6
    • 0015231529 scopus 로고
    • Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings
    • Hakami N., Neiman P.E., Canellos G.P., Lazerson J., Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings, N. Engl. J. Med. 285 (1971) 1163-1170.
    • (1971) N. Engl. J. Med. , vol.285 , pp. 1163-1170
    • Hakami, N.1    Neiman, P.E.2    Canellos, G.P.3    Lazerson, J.4
  • 7
    • 0014591579 scopus 로고
    • Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification
    • Lanzkowsky P., Erlandson M.E., Bezan A.I., Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification, Blood 34 (1969) 452-465.
    • (1969) Blood , vol.34 , pp. 452-465
    • Lanzkowsky, P.1    Erlandson, M.E.2    Bezan, A.I.3
  • 8
    • 0014748026 scopus 로고
    • A derangement in B12 metabolism associated with homocystinuria, cystathioninemia, hypomethioninemia and methylmalonic aciduria
    • Levy H.L., Mudd S.H., Schulman J.D., Dreyfus M.P., Abeles R.H., A derangement in B12 metabolism associated with homocystinuria, cystathioninemia, hypomethioninemia and methylmalonic aciduria, Am. J. Med. 48 (1970) 390-397.
    • (1970) Am. J. Med. , vol.48 , pp. 390-397
    • Levy, H.L.1    Mudd, S.H.2    Schulman, J.D.3    Dreyfus, M.P.4    Abeles, R.H.5
  • 9
    • 0028211930 scopus 로고
    • Methylenetetrahydrofolate reductase deficiency : Prenatal diagnosis and family studies
    • Marquet J., Chadefaux B., Bonnefont J.P., Saudubray J., Zittoun J., Methylenetetrahydrofolate reductase deficiency : prenatal diagnosis and family studies, Prenat. Diag. 14 (1994) 29-33.
    • (1994) Prenat. Diag. , vol.14 , pp. 29-33
    • Marquet, J.1    Chadefaux, B.2    Bonnefont, J.P.3    Saudubray, J.4    Zittoun, J.5
  • 10
    • 0020320948 scopus 로고
    • Hereditary transcobalamin II deficiency presenting as red cell hypoplasia
    • Niebrugge D.J., Benjamin D.R., Christie D., Scott C.R., Hereditary transcobalamin II deficiency presenting as red cell hypoplasia, J. Pediat. 101 (1982) 732-735.
    • (1982) J. Pediat. , vol.101 , pp. 732-735
    • Niebrugge, D.J.1    Benjamin, D.R.2    Christie, D.3    Scott, C.R.4
  • 11
    • 0031779446 scopus 로고    scopus 로고
    • Remethylation defects : Guidelines for clinical diagnosis and treatment
    • in press
    • Ogier de Baulny H., Gerard M., Saudubray J.M., Zittoun J., Remethylation defects : guidelines for clinical diagnosis and treatment, Eur. J. Pediat. 157 (1998) (in press).
    • (1998) Eur. J. Pediat. , vol.157
    • Ogier De Baulny, H.1    Gerard, M.2    Saudubray, J.M.3    Zittoun, J.4
  • 12
    • 22244481120 scopus 로고    scopus 로고
    • Characterization of congenital transcobalamin II (TC) deficiency in two patients
    • Qian L. , Regec A., McLoughlin P., Quadros E.V., Zittoun J., Rothenberg S., Characterization of congenital transcobalamin II (TC) deficiency in two patients, Blood 88 (1996) 1953.
    • (1996) Blood , vol.88 , pp. 1953
    • Qian, L.1    Regec, A.2    McLoughlin, P.3    Quadros, E.V.4    Zittoun, J.5    Rothenberg, S.6
  • 14
    • 0020655439 scopus 로고
    • Transcoblamin II deficiency associated with unusual bone marrow findings and chromosomal abnormalities
    • Rana S.R., Colman N., Goh K.O., Herbert V., Kiemperer M.R., Transcoblamin II deficiency associated with unusual bone marrow findings and chromosomal abnormalities, Am. J. Hematol. 14 (1983) 89-96.
    • (1983) Am. J. Hematol. , vol.14 , pp. 89-96
    • Rana, S.R.1    Colman, N.2    Goh, K.O.3    Herbert, V.4    Kiemperer, M.R.5
  • 16
    • 0024386049 scopus 로고
    • Defective lysosomal release of vitamin B12 (Cbl F) : A hereditary cobalamin metabolic disorder associated with sudden death
    • Shih V.E., Acel S.M., Tewksbury J.C., Watkins D., Cooper B.A., Rosenblatt D.S., Defective lysosomal release of vitamin B12 (Cbl F) : a hereditary cobalamin metabolic disorder associated with sudden death, Am. J. Med. Genet. 33 (1989) 555-563.
    • (1989) Am. J. Med. Genet. , vol.33 , pp. 555-563
    • Shih, V.E.1    Acel, S.M.2    Tewksbury, J.C.3    Watkins, D.4    Cooper, B.A.5    Rosenblatt, D.S.6
  • 19
    • 0024831226 scopus 로고
    • Functional methionine synthase deficiency (Cbl e and Cbl G) : Clinical and biochemical heterogeneity
    • Watkins D., Rosenblatt D.S., Functional methionine synthase deficiency (Cbl E and Cbl G) : clinical and biochemical heterogeneity, Am. J. Med. Genet. 34 (1989) 427-434.
    • (1989) Am. J. Med. Genet. , vol.34 , pp. 427-434
    • Watkins, D.1    Rosenblatt, D.S.2
  • 20
    • 0029165414 scopus 로고
    • Congenital errors of folate metabolism in megaloblastic anaemia
    • Zittoun J., Congenital errors of folate metabolism in megaloblastic anaemia, Baillière's Clin. Haematol. 8 (1995) 603-616.
    • (1995) Baillière's Clin. Haematol. , vol.8 , pp. 603-616
    • Zittoun, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.