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Journal Abstract Search

173 related items for PubMed ID: 2688421

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Vitamin B12 responsive homocystinuria and megaloblastic anemia: heterogeneity in methylcobalamin deficiency.
    Rosenblatt DS, Thomas IT, Watkins D, Cooper BA, Erbe RW.
    Am J Med Genet; 1987 Feb; 26(2):377-83. PubMed ID: 3812589
    [Abstract] [Full Text] [Related]

  • 4. 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; 20(6):731-41. PubMed ID: 9427140
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Heterogeneity in cblG: differential retention of cobalamin on methionine synthase.
    Sillaots SL, Hall CA, Hurteloup V, Rosenblatt DS.
    Biochem Med Metab Biol; 1992 Jun 05; 47(3):242-9. PubMed ID: 1627355
    [Abstract] [Full Text] [Related]

  • 7. Vitamin B12-responsive neonatal megaloblastic anemia and homocystinuria with associated reduced methionine synthase activity.
    Hallam LJ, Sawyer M, Clark AC, Van der Weyden MB.
    Blood; 1987 Apr 05; 69(4):1128-33. PubMed ID: 3828532
    [Abstract] [Full Text] [Related]

  • 8. 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 05; 74(6):2149-56. PubMed ID: 6511919
    [Abstract] [Full Text] [Related]

  • 9. [A rare inborn error of intracellular processing of cobalamine presenting with microcephalus and megaloblastic anemia: a report of 3 children].
    Müller P, Horneff G, Hennermann JB.
    Klin Padiatr; 2007 Dec 05; 219(6):361-7. PubMed ID: 18050048
    [Abstract] [Full Text] [Related]

  • 10. Methionine synthase deficiency without megaloblastic anaemia.
    Kvittingen EA, Spangen S, Lindemans J, Fowler B.
    Eur J Pediatr; 1997 Dec 05; 156(12):925-30. PubMed ID: 9453374
    [Abstract] [Full Text] [Related]

  • 11. Methionine auxotrophy in inborn errors of cobalamin metabolism.
    Garovic-Kocic V, Rosenblatt DS.
    Clin Invest Med; 1992 Aug 05; 15(4):395-400. PubMed ID: 1516297
    [Abstract] [Full Text] [Related]

  • 12. The nature of the defect in cobalamin G mutation.
    Hall CA, Lindenbaum RH, Arenson E, Begley JA, Chu RC.
    Clin Invest Med; 1989 Aug 05; 12(4):262-9. PubMed ID: 2535439
    [Abstract] [Full Text] [Related]

  • 13. 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 05; 63(2):409-14. PubMed ID: 9683607
    [Abstract] [Full Text] [Related]

  • 14. Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.
    Schuh S, Rosenblatt DS, Cooper BA, Schroeder ML, Bishop AJ, Seargeant LE, Haworth JC.
    N Engl J Med; 1984 Mar 15; 310(11):686-90. PubMed ID: 6700644
    [Abstract] [Full Text] [Related]

  • 15. cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
    Zavadáková P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V.
    Hum Mutat; 2005 Mar 15; 25(3):239-47. PubMed ID: 15714522
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Cobalamin E (cblE) disease: a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine.
    Steen C, Rosenblatt DS, Scheying H, Braeuer HC, Kohlschütter A.
    J Inherit Metab Dis; 1997 Sep 15; 20(5):705-6. PubMed ID: 9323567
    [No Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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]

  • 20. Vitamin B12 in health and disease: part I--inherited disorders of function, absorption, and transport.
    Kapadia CR.
    Gastroenterologist; 1995 Dec 08; 3(4):329-44. PubMed ID: 8775094
    [Abstract] [Full Text] [Related]

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