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123 related items for PubMed ID: 31951343

  • 1. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.
    Kasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P.
    Turk J Pediatr; 2019; 61(2):282-285. PubMed ID: 31951343
    [Abstract] [Full Text] [Related]

  • 2. 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; 38(5):957-67. PubMed ID: 25526710
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. [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 Nov; 219(6):361-7. PubMed ID: 18050048
    [Abstract] [Full Text] [Related]

  • 5. Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls.
    Vaisbich MH, Braga A, Gabrielle M, Bueno C, Piazzon F, Kok F.
    Pediatr Nephrol; 2017 Jun; 32(6):1089-1092. PubMed ID: 28210839
    [Abstract] [Full Text] [Related]

  • 6. Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.
    Wilson A, Leclerc D, Rosenblatt DS, Gravel RA.
    Hum Mol Genet; 1999 Oct; 8(11):2009-16. PubMed ID: 10484769
    [Abstract] [Full Text] [Related]

  • 7. Methionine synthase reductase deficiency (CblE): A report of two patients and a novel mutation.
    Ruiz-Mercado M, Vargas MT, de Soto IP, Pecellín CD, Sánchez MC, Delgado MA, Ruiz RB, Pérez-Simón JA, Díaz-Aguado AH.
    Hematology; 2016 Apr; 21(3):193-7. PubMed ID: 25978498
    [Abstract] [Full Text] [Related]

  • 8. Update on cobalamin, folate, and homocysteine.
    Carmel R, Green R, Rosenblatt DS, Watkins D.
    Hematology Am Soc Hematol Educ Program; 2003 Apr; ():62-81. PubMed ID: 14633777
    [Abstract] [Full Text] [Related]

  • 9. 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; 25(3):239-47. PubMed ID: 15714522
    [Abstract] [Full Text] [Related]

  • 10. Isolated remethylation disorders: do our treatments benefit patients?
    Schiff M, Benoist JF, Tilea B, Royer N, Giraudier S, Ogier de Baulny H.
    J Inherit Metab Dis; 2011 Feb; 34(1):137-45. PubMed ID: 20490923
    [Abstract] [Full Text] [Related]

  • 11. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
    Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR.
    J Inherit Metab Dis; 2022 Mar; 45(2):157-168. PubMed ID: 34625984
    [Abstract] [Full Text] [Related]

  • 12. Inborn errors of cobalamin absorption and metabolism.
    Watkins D, Rosenblatt DS.
    Am J Med Genet C Semin Med Genet; 2011 Feb 15; 157C(1):33-44. PubMed ID: 21312325
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.
    Vilaseca MA, Vilarinho L, Zavadakova P, Vela E, Cleto E, Pineda M, Coimbra E, Suormala T, Fowler B, Kozich V.
    J Inherit Metab Dis; 2003 Jan 15; 26(4):361-9. PubMed ID: 12971424
    [Abstract] [Full Text] [Related]

  • 15.
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  • 16. Vitamin B12 in health and disease: part I--inherited disorders of function, absorption, and transport.
    Kapadia CR.
    Gastroenterologist; 1995 Dec 15; 3(4):329-44. PubMed ID: 8775094
    [Abstract] [Full Text] [Related]

  • 17. Human methionine synthase reductase, a soluble P-450 reductase-like dual flavoprotein, is sufficient for NADPH-dependent methionine synthase activation.
    Olteanu H, Banerjee R.
    J Biol Chem; 2001 Sep 21; 276(38):35558-63. PubMed ID: 11466310
    [Abstract] [Full Text] [Related]

  • 18. Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study.
    Jacques PF, Bostom AG, Selhub J, Rich S, Ellison RC, Eckfeldt JH, Gravel RA, Rozen R, National Heart, Lung and Blood Institute, National Institutes of Health.
    Atherosclerosis; 2003 Jan 21; 166(1):49-55. PubMed ID: 12482550
    [Abstract] [Full Text] [Related]

  • 19. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.
    Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D, Heng HH, Rommens JM, Scherer SW, Rosenblatt DS, Gravel RA.
    Proc Natl Acad Sci U S A; 1998 Mar 17; 95(6):3059-64. PubMed ID: 9501215
    [Abstract] [Full Text] [Related]

  • 20. Heterogeneity in cblG: differential retention of cobalamin on methionine synthase.
    Sillaots SL, Hall CA, Hurteloup V, Rosenblatt DS.
    Biochem Med Metab Biol; 1992 Jun 17; 47(3):242-9. PubMed ID: 1627355
    [Abstract] [Full Text] [Related]

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