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Journal Abstract Search

129 related items for PubMed ID: 25978498

  • 1. 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
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  • 2. 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
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  • 3. [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 Mar; 219(6):361-7. PubMed ID: 18050048
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  • 4. 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
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  • 5. CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.
    Zavadakova P, Fowler B, Zeman J, Suormala T, Pristoupilová K, Kozich V, Zavad'áková P.
    J Inherit Metab Dis; 2002 Oct; 25(6):461-76. PubMed ID: 12555939
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  • 6. 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
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  • 7. 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 Sep; 61(2):282-285. PubMed ID: 31951343
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  • 8. Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?
    Nguyen A, Deshayes S, Nowoczyn M, Imbard A, Mansour-Hendili L, Cesbron A, Benoist JF, Schiff M.
    JIMD Rep; 2024 May; 65(3):163-170. PubMed ID: 38736634
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  • 9. 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
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  • 10. Mouse model for deficiency of methionine synthase reductase exhibits short-term memory impairment and disturbances in brain choline metabolism.
    Jadavji NM, Bahous RH, Deng L, Malysheva O, Grand'maison M, Bedell BJ, Caudill MA, Rozen R.
    Biochem J; 2014 Jul 15; 461(2):205-12. PubMed ID: 24800750
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  • 11. 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
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  • 15. 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 15; 45(2):157-168. PubMed ID: 34625984
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  • 16. Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation.
    Gherasim C, Rosenblatt DS, Banerjee R.
    Hum Mutat; 2007 Oct 15; 28(10):1028-33. PubMed ID: 17554763
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