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306 related items for PubMed ID: 25079578

  • 1. Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.
    D'Aco KE, Bearden D, Watkins D, Hyland K, Rosenblatt DS, Ficicioglu C.
    Pediatr Neurol; 2014 Aug; 51(2):266-70. PubMed ID: 25079578
    [Abstract] [Full Text] [Related]

  • 2. Early treatment using betaine and methionine for a neonate with MTHFR deficiency.
    Nishimoto E, Ito Y, Sakakibara T, Nishikubo T.
    Pediatr Int; 2019 Dec; 61(12):1265-1266. PubMed ID: 31782227
    [No Abstract] [Full Text] [Related]

  • 3. The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation.
    Liu X, Li Y, Wang M, Wang X, Zhang L, Peng T, Liang W, Wang Z, Lu H.
    Aging (Albany NY); 2020 Dec 03; 13(1):1176-1185. PubMed ID: 33290257
    [Abstract] [Full Text] [Related]

  • 4. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
    Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B.
    J Inherit Metab Dis; 2016 Jan 03; 39(1):115-24. PubMed ID: 26025547
    [Abstract] [Full Text] [Related]

  • 5. Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.
    Couser NL, McClure J, Evans MW, Haines NR, Burden SK, Muenzer J.
    Ophthalmic Genet; 2017 Jan 03; 38(1):91-94. PubMed ID: 27046515
    [Abstract] [Full Text] [Related]

  • 6. Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.
    Prasad AN, Rupar CA, Prasad C.
    Brain Dev; 2011 Oct 03; 33(9):758-69. PubMed ID: 21778025
    [Abstract] [Full Text] [Related]

  • 7. [Methylenetetrahydrofolate reductase deficiency-induced schizophrenia in a school-age boy].
    Wang Q, Liu J, Liu YP, Li XY, Ma YY, Wu TF, Ding Y, Song JQ, Wang YJ, Yang YL.
    Zhongguo Dang Dai Er Ke Za Zhi; 2014 Jan 03; 16(1):62-6. PubMed ID: 24461181
    [Abstract] [Full Text] [Related]

  • 8. Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.
    Lossos A, Teltsh O, Milman T, Meiner V, Rozen R, Leclerc D, Schwahn BC, Karp N, Rosenblatt DS, Watkins D, Shaag A, Korman SH, Heyman SN, Gal A, Newman JP, Steiner-Birmanns B, Abramsky O, Kohn Y.
    JAMA Neurol; 2014 Jul 01; 71(7):901-4. PubMed ID: 24797679
    [Abstract] [Full Text] [Related]

  • 9. [Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid].
    Tamura A, Sasaki R, Kagawa K, Nakatani K, Osaka H, Tomimoto H.
    Rinsho Shinkeigaku; 2014 Jul 01; 54(3):200-6. PubMed ID: 24705833
    [Abstract] [Full Text] [Related]

  • 10. Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency.
    Diekman EF, de Koning TJ, Verhoeven-Duif NM, Rovers MM, van Hasselt PM.
    JAMA Neurol; 2014 Feb 01; 71(2):188-94. PubMed ID: 24323041
    [Abstract] [Full Text] [Related]

  • 11. Severe methylenetetrahydrofolate reductase deficiency in mice results in behavioral anomalies with morphological and biochemical changes in hippocampus.
    Jadavji NM, Deng L, Leclerc D, Malysheva O, Bedell BJ, Caudill MA, Rozen R.
    Mol Genet Metab; 2012 Jun 01; 106(2):149-59. PubMed ID: 22521626
    [Abstract] [Full Text] [Related]

  • 12. Methylene Tetrahydrofolate Reductase Deficiency.
    Kaur R, Correa ARE, Thakur S, Kabra M, Gupta N.
    Indian J Pediatr; 2020 Nov 01; 87(11):951-953. PubMed ID: 32451826
    [Abstract] [Full Text] [Related]

  • 13. Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.
    Rommer PS, Zschocke J, Fowler B, Födinger M, Konstantopoulou V, Möslinger D, Stögmann E, Suess E, Baumgartner M, Auff E, Sunder-Plassmann G.
    J Neurol Sci; 2017 Dec 15; 383():123-127. PubMed ID: 29246599
    [Abstract] [Full Text] [Related]

  • 14. Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.
    Iida S, Nakamura M, Asayama S, Kunieda T, Kaneko S, Osaka H, Kusaka H.
    BMC Neurol; 2017 Feb 28; 17(1):47. PubMed ID: 28241805
    [Abstract] [Full Text] [Related]

  • 15. Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
    Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR.
    Hum Mutat; 2015 Jun 28; 36(6):611-21. PubMed ID: 25736335
    [Abstract] [Full Text] [Related]

  • 16. Adult-onset methylenetetrahydrofolate reductase deficiency.
    Vieira D, Florindo C, Tavares de Almeida I, Macário MC.
    BMJ Case Rep; 2020 Mar 10; 13(3):. PubMed ID: 32161077
    [Abstract] [Full Text] [Related]

  • 17. Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency.
    Munoz T, Patel J, Badilla-Porras R, Kronick J, Mercimek-Mahmutoglu S.
    Brain Dev; 2015 Jan 10; 37(1):168-70. PubMed ID: 24726568
    [Abstract] [Full Text] [Related]

  • 18. Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.
    Bishop L, Kanoff R, Charnas L, Krenzel C, Berry SA, Schimmenti LA.
    J Child Neurol; 2008 Jul 10; 23(7):823-8. PubMed ID: 18658082
    [Abstract] [Full Text] [Related]

  • 19. Stability of DNA methylation patterns in mouse spermatogonia under conditions of MTHFR deficiency and methionine supplementation.
    Garner JL, Niles KM, McGraw S, Yeh JR, Cushnie DW, Hermo L, Nagano MC, Trasler JM.
    Biol Reprod; 2013 Nov 10; 89(5):125. PubMed ID: 24048573
    [Abstract] [Full Text] [Related]

  • 20. [Remethylation disorders: about two cases].
    Brailova M, Bouvier D, Regnier A, Szymanowski M, Sapin V, Minet-Quinard R.
    Ann Biol Clin (Paris); 2020 Dec 01; 78(6):647-654. PubMed ID: 33237026
    [Abstract] [Full Text] [Related]

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