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Journal Abstract Search

233 related items for PubMed ID: 25633902

  • 1. 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; 38(5):863-72. PubMed ID: 25633902
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  • 6. 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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  • 7. Moderate folic acid supplementation and MTHFD1-synthetase deficiency in mice, a model for the R653Q variant, result in embryonic defects and abnormal placental development.
    Christensen KE, Hou W, Bahous RH, Deng L, Malysheva OV, Arning E, Bottiglieri T, Caudill MA, Jerome-Majewska LA, Rozen R.
    Am J Clin Nutr; 2016 Nov; 104(5):1459-1469. PubMed ID: 27707701
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  • 11. 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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  • 13. A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development.
    Christensen KE, Deng L, Leung KY, Arning E, Bottiglieri T, Malysheva OV, Caudill MA, Krupenko NI, Greene ND, Jerome-Majewska L, MacKenzie RE, Rozen R.
    Hum Mol Genet; 2013 Sep 15; 22(18):3705-19. PubMed ID: 23704330
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  • 14. [Two cases with generalized intracranial calcification due to hereditary folate malabsorption and literature review].
    Zhang Y, Wang Q, Li DX, Liu YP, Song JQ, Li MQ, Qin YP, Yang YL.
    Zhonghua Er Ke Za Zhi; 2016 Dec 02; 54(12):931-935. PubMed ID: 27938595
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  • 15. 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 02; 30(2):212-20. PubMed ID: 18767138
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  • 18. Abnormal folate metabolism causes age-, sex- and parent-of-origin-specific haematological defects in mice.
    Padmanabhan N, Menelaou K, Gao J, Anderson A, Blake GET, Li T, Daw BN, Watson ED.
    J Physiol; 2018 Sep 02; 596(18):4341-4360. PubMed ID: 30024025
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  • 19. Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
    Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG.
    Am J Hum Genet; 2011 Feb 11; 88(2):216-25. PubMed ID: 21310276
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  • 20. A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.
    Svaton M, Skvarova Kramarzova K, Kanderova V, Mancikova A, Smisek P, Jesina P, Krijt J, Stiburkova B, Dobrovolny R, Sokolova J, Bakardjieva-Mihaylova V, Vodickova E, Rackova M, Stuchly J, Kalina T, Stary J, Trka J, Fronkova E, Kozich V.
    Blood; 2020 Jun 25; 135(26):2427-2431. PubMed ID: 32276275
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