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Journal Abstract Search

173 related items for PubMed ID: 2688421

  • 21.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 22. 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
    [Abstract] [Full Text] [Related]

  • 23. Disturbed visual system function in methionine synthase deficiency.
    Poloschek CM, Fowler B, Unsold R, Lorenz B.
    Graefes Arch Clin Exp Ophthalmol; 2005 May; 243(5):497-500. PubMed ID: 15931548
    [Abstract] [Full Text] [Related]

  • 24. Defects in human methionine synthase in cblG patients.
    Gulati S, Baker P, Li YN, Fowler B, Kruger W, Brody LC, Banerjee R.
    Hum Mol Genet; 1996 Dec; 5(12):1859-65. PubMed ID: 8968736
    [Abstract] [Full Text] [Related]

  • 25. 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 Dec; 61(2):282-285. PubMed ID: 31951343
    [Abstract] [Full Text] [Related]

  • 26. 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]

  • 27. 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]

  • 28. 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 01; 45(2):157-168. PubMed ID: 34625984
    [Abstract] [Full Text] [Related]

  • 29. Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
    Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS.
    J Pediatr; 2009 Apr 01; 154(4):551-6. PubMed ID: 19058814
    [Abstract] [Full Text] [Related]

  • 30. Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood.
    Carmel R, Watkins D, Goodman SI, Rosenblatt DS.
    N Engl J Med; 1988 Jun 30; 318(26):1738-41. PubMed ID: 2897628
    [No Abstract] [Full Text] [Related]

  • 31. Methionine synthase inactivation by nitrous oxide during methionine loading of normal human fibroblasts. Homocysteine remethylation as determinant of enzyme inactivation and homocysteine export.
    Christensen B, Ueland PM.
    J Pharmacol Exp Ther; 1993 Dec 30; 267(3):1298-303. PubMed ID: 8263793
    [Abstract] [Full Text] [Related]

  • 32. Inherited disorders of vitamin B12 utilization.
    Rosenblatt DS, Cooper BA.
    Bioessays; 1990 Jul 30; 12(7):331-4. PubMed ID: 2203337
    [Abstract] [Full Text] [Related]

  • 33. Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.
    Morel CF, Watkins D, Scott P, Rinaldo P, Rosenblatt DS.
    Mol Genet Metab; 2005 Jul 30; 86(1-2):160-71. PubMed ID: 16150626
    [Abstract] [Full Text] [Related]

  • 34. Megaloblastic anemia and immune abnormalities in a patient with methionine synthase deficiency.
    Zittoun J, Fischer A, Marquet J, Pérignon JL, Lagrue A, Griscelli C.
    Acta Paediatr Scand; 1987 Nov 30; 76(6):991-8. PubMed ID: 3425320
    [Abstract] [Full Text] [Related]

  • 35. [Measurement of methylmalonic acid, homocysteine and methionine in cobalamin and folate deficiencies and homocysteinuria].
    Ueland PM, Schneede J.
    Tidsskr Nor Laegeforen; 2008 Mar 13; 128(6):690-3. PubMed ID: 18337849
    [Abstract] [Full Text] [Related]

  • 36. Inherited defects of cobalamin metabolism.
    Watkins D, Rosenblatt DS.
    Vitam Horm; 2022 Mar 13; 119():355-376. PubMed ID: 35337626
    [Abstract] [Full Text] [Related]

  • 37. 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 13; 34(1):137-45. PubMed ID: 20490923
    [Abstract] [Full Text] [Related]

  • 38. 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 Feb 13; 26(4):361-9. PubMed ID: 12971424
    [Abstract] [Full Text] [Related]

  • 39. 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 13; 8(11):2009-16. PubMed ID: 10484769
    [Abstract] [Full Text] [Related]

  • 40. [A case report of pyridoxine-responsive homocystinuria].
    Milosević-Tosić M, Borota J, Katanić D, Vlaski J.
    Med Pregl; 1999 Oct 13; 52(11-12):501-4. PubMed ID: 10748775
    [Abstract] [Full Text] [Related]

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