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Journal Abstract Search

210 related items for PubMed ID: 24705833

  • 1. [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; 54(3):200-6. PubMed ID: 24705833
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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. Early treatment using betaine and methionine for a neonate with MTHFR deficiency.
    Nishimoto E, Ito Y, Sakakibara T, Nishikubo T.
    Pediatr Int; 2019 Dec 03; 61(12):1265-1266. PubMed ID: 31782227
    [No Abstract] [Full Text] [Related]

  • 5. [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]

  • 6. 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]

  • 7. Reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to MTHFR deficiency: A treatable metabolic disorder.
    Padmanabha H, Shekhar R, Mahale R, Annam H, Bhat M, Sangeeth TA, Christopher R, Arunachal G, Mailankody P, Mathuranath PS.
    J Inherit Metab Dis; 2021 Nov 15; 44(6):1505-1506. PubMed ID: 34541688
    [No Abstract] [Full Text] [Related]

  • 8. 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 Nov 15; 38(1):91-94. PubMed ID: 27046515
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 10; 39(1):115-24. PubMed ID: 26025547
    [Abstract] [Full Text] [Related]

  • 11. Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.
    Prasad AN, Rupar CA, Prasad C.
    Brain Dev; 2011 Oct 10; 33(9):758-69. PubMed ID: 21778025
    [Abstract] [Full Text] [Related]

  • 12. 5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.
    Tsuji M, Takagi A, Sameshima K, Iai M, Yamashita S, Shinbo H, Furuya N, Kurosawa K, Osaka H.
    Brain Dev; 2011 Jun 10; 33(6):521-4. PubMed ID: 20850942
    [Abstract] [Full Text] [Related]

  • 13. Increased resistance to malaria in mice with methylenetetrahydrofolate reductase (Mthfr) deficiency suggests a mechanism for selection of the MTHFR 677C>T (c.665C>T) variant.
    Meadows DN, Pyzik M, Wu Q, Torre S, Gros P, Vidal SM, Rozen R.
    Hum Mutat; 2014 May 10; 35(5):594-600. PubMed ID: 24616178
    [Abstract] [Full Text] [Related]

  • 14. Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency.
    Arai M, Osaka H.
    Epilepsia; 2011 Jul 10; 52(7):e58-61. PubMed ID: 21480888
    [Abstract] [Full Text] [Related]

  • 15. Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
    Burda P, Suormala T, Heuberger D, Schäfer A, Fowler B, Froese DS, Baumgartner MR.
    J Inherit Metab Dis; 2017 Mar 10; 40(2):297-306. PubMed ID: 27743313
    [Abstract] [Full Text] [Related]

  • 16. 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 10; 36(6):611-21. PubMed ID: 25736335
    [Abstract] [Full Text] [Related]

  • 17. [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]

  • 18. 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 01; 37(1):168-70. PubMed ID: 24726568
    [Abstract] [Full Text] [Related]

  • 19. Hyperhomocysteinemia-induced upper extremity deep vein thrombosis and pulmonary embolism in a patient with methyltetrahydrofolate reductase mutation: a case report and literature review.
    Gao L, Kolanuvada B, Naik G, Zhang Y, Zhao M, Sun L, Alaie D, Petrillo RL.
    Blood Coagul Fibrinolysis; 2016 Sep 01; 27(6):720-3. PubMed ID: 26650456
    [Abstract] [Full Text] [Related]

  • 20. The MTHFR 677C>T polymorphism is associated with unmetabolized folic acid in breast milk in a cohort of Canadian women.
    Page R, Wong A, Arbuckle TE, MacFarlane AJ.
    Am J Clin Nutr; 2019 Aug 01; 110(2):401-409. PubMed ID: 31005971
    [Abstract] [Full Text] [Related]

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