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Journal Abstract Search

194 related items for PubMed ID: 27163846

  • 1. Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism.
    Watkins D, Rosenblatt DS.
    Biochimie; 2016 Jul; 126():3-5. PubMed ID: 27163846
    [Abstract] [Full Text] [Related]

  • 2. Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
    Watkins D, Schwartzentruber JA, Ganesh J, Orange JS, Kaplan BS, Nunez LD, Majewski J, Rosenblatt DS.
    J Med Genet; 2011 Sep; 48(9):590-2. PubMed ID: 21813566
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  • 3. Severe combined immunodeficiency resulting from mutations in MTHFD1.
    Keller MD, Ganesh J, Heltzer M, Paessler M, Bergqvist AG, Baluarte HJ, Watkins D, Rosenblatt DS, Orange JS.
    Pediatrics; 2013 Feb; 131(2):e629-34. PubMed ID: 23296427
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  • 4. Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
    Bidla G, Watkins D, Chéry C, Froese DS, Ells C, Kerachian M, Saskin A, Christensen KE, Gilfix BM, Guéant JL, Rosenblatt DS.
    Mol Genet Metab; 2020 Jul; 130(3):179-182. PubMed ID: 32414565
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  • 5. Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis.
    Field MS, Kamynina E, Watkins D, Rosenblatt DS, Stover PJ.
    Proc Natl Acad Sci U S A; 2015 Jan 13; 112(2):400-5. PubMed ID: 25548164
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  • 11. Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.
    Kim JC, Lee NC, Hwu PW, Chien YH, Fahiminiya S, Majewski J, Watkins D, Rosenblatt DS.
    Mol Genet Metab; 2012 Dec 13; 107(4):664-8. PubMed ID: 23141461
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  • 12. Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
    Burda P, Kuster A, Hjalmarson O, Suormala T, Bürer C, Lutz S, Roussey G, Christa L, Asin-Cayuela J, Kollberg G, Andersson BA, Watkins D, Rosenblatt DS, Fowler B, Holme E, Froese DS, Baumgartner MR.
    J Inherit Metab Dis; 2015 Sep 13; 38(5):863-72. PubMed ID: 25633902
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  • 13. Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.
    Fettelschoss V, Burda P, Sagné C, Coelho D, De Laet C, Lutz S, Suormala T, Fowler B, Pietrancosta N, Gasnier B, Bornhauser B, Froese DS, Baumgartner MR.
    J Biol Chem; 2017 Jul 14; 292(28):11980-11991. PubMed ID: 28572511
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  • 15. MTHFD1 regulates nuclear de novo thymidylate biosynthesis and genome stability.
    Field MS, Kamynina E, Stover PJ.
    Biochimie; 2016 Jul 14; 126():27-30. PubMed ID: 26853819
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  • 16. 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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  • 17. Inherited defects of cobalamin metabolism.
    Watkins D, Rosenblatt DS.
    Vitam Horm; 2022 Feb 15; 119():355-376. PubMed ID: 35337626
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