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Journal Abstract Search

117 related items for PubMed ID: 27707659

  • 1. Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.
    Ramakrishnan KA, Pengelly RJ, Gao Y, Morgan M, Patel SV, Davies EG, Ennis S, Faust SN, Williams AP.
    J Allergy Clin Immunol Pract; 2016; 4(6):1160-1166.e10. PubMed ID: 27707659
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  • 6. 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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  • 7. 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
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  • 9. Murine MTHFD1-synthetase deficiency, a model for the human MTHFD1 R653Q polymorphism, decreases growth of colorectal tumors.
    Lévesque N, Christensen KE, Van Der Kraak L, Best AF, Deng L, Caldwell D, MacFarlane AJ, Beauchemin N, Rozen R.
    Mol Carcinog; 2017 Mar; 56(3):1030-1040. PubMed ID: 27597531
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  • 10. Back to the Future: 1753 - Vitamin C Remediates Scurvy, 2016 - Folinic Acid Does the Same for MTHFD1-SCID with the Help of Exome Sequencing.
    Kobayashi RH.
    J Allergy Clin Immunol Pract; 2016 Mar; 4(6):1167-1168. PubMed ID: 27836062
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  • 13. Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.
    Cario H, Smith DE, Blom H, Blau N, Bode H, Holzmann K, Pannicke U, Hopfner KP, Rump EM, Ayric Z, Kohne E, Debatin KM, Smulders Y, Schwarz K.
    Am J Hum Genet; 2011 Feb 11; 88(2):226-31. PubMed ID: 21310277
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  • 14. Immunodeficiency and inborn disorders of vitamin B12 and folate metabolism.
    Watkins D, Rosenblatt DS.
    Curr Opin Clin Nutr Metab Care; 2020 Jul 11; 23(4):241-246. PubMed ID: 32412981
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  • 16. The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
    Christensen KE, Rohlicek CV, Andelfinger GU, Michaud J, Bigras JL, Richter A, Mackenzie RE, Rozen R.
    Hum Mutat; 2009 Feb 11; 30(2):212-20. PubMed ID: 18767138
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  • 18. Association between MTHFD1 polymorphisms and neural tube defect susceptibility.
    Meng J, Han L, Zhuang B.
    J Neurol Sci; 2015 Jan 15; 348(1-2):188-94. PubMed ID: 25524527
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