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123 related items for PubMed ID: 1627355

  • 1. Heterogeneity in cblG: differential retention of cobalamin on methionine synthase.
    Sillaots SL, Hall CA, Hurteloup V, Rosenblatt DS.
    Biochem Med Metab Biol; 1992 Jun; 47(3):242-9. PubMed ID: 1627355
    [Abstract] [Full Text] [Related]

  • 2. Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.
    Watkins D, Rosenblatt DS.
    Am J Med Genet; 1989 Nov; 34(3):427-34. PubMed ID: 2688421
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  • 3.
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  • 4. Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.
    Watkins D, Rosenblatt DS.
    J Clin Invest; 1988 Jun; 81(6):1690-4. PubMed ID: 3384945
    [Abstract] [Full Text] [Related]

  • 5. Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency.
    Wilson A, Leclerc D, Saberi F, Campeau E, Hwang HY, Shane B, Phillips JA, Rosenblatt DS, Gravel RA.
    Am J Hum Genet; 1998 Aug; 63(2):409-14. PubMed ID: 9683607
    [Abstract] [Full Text] [Related]

  • 6. Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review.
    Harding CO, Arnold G, Barness LA, Wolff JA, Rosenblatt DS.
    Am J Med Genet; 1997 Sep 05; 71(4):384-90. PubMed ID: 9286442
    [Abstract] [Full Text] [Related]

  • 7. The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.
    Suormala T, Baumgartner MR, Coelho D, Zavadakova P, Kozich V, Koch HG, Berghaüser M, Wraith JE, Burlina A, Sewell A, Herwig J, Fowler B.
    J Biol Chem; 2004 Oct 08; 279(41):42742-9. PubMed ID: 15292234
    [Abstract] [Full Text] [Related]

  • 8. Defects in auxiliary redox proteins lead to functional methionine synthase deficiency.
    Gulati S, Chen Z, Brody LC, Rosenblatt DS, Banerjee R.
    J Biol Chem; 1997 Aug 01; 272(31):19171-5. PubMed ID: 9235907
    [Abstract] [Full Text] [Related]

  • 9. Recognition of two intracellular cobalamin binding proteins and their identification as methylmalonyl-CoA mutase and methionine synthetase.
    Kolhouse JF, Allen RH.
    Proc Natl Acad Sci U S A; 1977 Mar 01; 74(3):921-5. PubMed ID: 15259
    [Abstract] [Full Text] [Related]

  • 10. Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.
    Fofou-Caillierez MB, Mrabet NT, Chéry C, Dreumont N, Flayac J, Pupavac M, Paoli J, Alberto JM, Coelho D, Camadro JM, Feillet F, Watkins D, Fowler B, Rosenblatt DS, Guéant JL.
    Hum Mol Genet; 2013 Nov 15; 22(22):4591-601. PubMed ID: 23825108
    [Abstract] [Full Text] [Related]

  • 11. Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
    Huemer M, Bürer C, Ješina P, Kožich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos FJ, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner MR.
    J Inherit Metab Dis; 2015 Sep 15; 38(5):957-67. PubMed ID: 25526710
    [Abstract] [Full Text] [Related]

  • 12. Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis.
    Rosenblatt DS, Cooper BA, Pottier A, Lue-Shing H, Matiaszuk N, Grauer K.
    J Clin Invest; 1984 Dec 15; 74(6):2149-56. PubMed ID: 6511919
    [Abstract] [Full Text] [Related]

  • 13. Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).
    Fowler B, Schutgens RB, Rosenblatt DS, Smit GP, Lindemans J.
    J Inherit Metab Dis; 1997 Nov 15; 20(6):731-41. PubMed ID: 9427140
    [Abstract] [Full Text] [Related]

  • 14. Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.
    Bassila C, Ghemrawi R, Flayac J, Froese DS, Baumgartner MR, Guéant JL, Coelho D.
    Biochim Biophys Acta Mol Basis Dis; 2017 Jan 15; 1863(1):103-112. PubMed ID: 27771510
    [Abstract] [Full Text] [Related]

  • 15. The nature of the defect in cobalamin G mutation.
    Hall CA, Lindenbaum RH, Arenson E, Begley JA, Chu RC.
    Clin Invest Med; 1989 Aug 15; 12(4):262-9. PubMed ID: 2535439
    [Abstract] [Full Text] [Related]

  • 16. Cobalamin metabolism in cultured human chorionic villus cells.
    Begley JA, Colligan PD, Chu RC, Hall CA.
    J Cell Physiol; 1993 Jul 15; 156(1):43-7. PubMed ID: 8100234
    [Abstract] [Full Text] [Related]

  • 17. Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts.
    Mellman I, Willard HF, Rosenberg LE.
    J Clin Invest; 1978 Nov 15; 62(5):952-60. PubMed ID: 30783
    [Abstract] [Full Text] [Related]

  • 18. Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing.
    Rashka C, Hergalant S, Dreumont N, Oussalah A, Camadro JM, Marchand V, Hassan Z, Baumgartner MR, Rosenblatt DS, Feillet F, Guéant JL, Flayac J, Coelho D.
    Hum Mol Genet; 2020 Jul 29; 29(12):1969-1985. PubMed ID: 32068834
    [Abstract] [Full Text] [Related]

  • 19. The dynamics of cobalamin utilization in L-1210 mouse leukemia cells: a model of cellular cobalamin metabolism.
    Quadros EV, Jacobsen DW.
    Biochim Biophys Acta; 1995 Jun 09; 1244(2-3):395-403. PubMed ID: 7599160
    [Abstract] [Full Text] [Related]

  • 20. Intracellular binding of radioactive hydroxocobalamin to cobalamin-dependent apoenzymes in rat liver.
    Mellman IS, Youngdahl-Turner P, Willard HF, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1977 Mar 09; 74(3):916-20. PubMed ID: 15258
    [Abstract] [Full Text] [Related]

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