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Journal Abstract Search

230 related items for PubMed ID: 9587031

  • 1. Remethylation defects: guidelines for clinical diagnosis and treatment.
    Ogier de Baulny H, Gérard M, Saudubray JM, Zittoun J.
    Eur J Pediatr; 1998 Apr; 157 Suppl 2():S77-83. PubMed ID: 9587031
    [Abstract] [Full Text] [Related]

  • 2. Isolated remethylation disorders: do our treatments benefit patients?
    Schiff M, Benoist JF, Tilea B, Royer N, Giraudier S, Ogier de Baulny H.
    J Inherit Metab Dis; 2011 Feb; 34(1):137-45. PubMed ID: 20490923
    [Abstract] [Full Text] [Related]

  • 3. Genetic defects of folate and cobalamin metabolism.
    Fowler B.
    Eur J Pediatr; 1998 Apr; 157 Suppl 2():S60-6. PubMed ID: 9587028
    [Abstract] [Full Text] [Related]

  • 4. Methionine auxotrophy in inborn errors of cobalamin metabolism.
    Garovic-Kocic V, Rosenblatt DS.
    Clin Invest Med; 1992 Aug; 15(4):395-400. PubMed ID: 1516297
    [Abstract] [Full Text] [Related]

  • 5. Methionine and serine formation in control and mutant human cultured fibroblasts: evidence for methyl trapping and characterization of remethylation defects.
    Fowler B, Whitehouse C, Wenzel F, Wraith JE.
    Pediatr Res; 1997 Jan; 41(1):145-51. PubMed ID: 8979304
    [Abstract] [Full Text] [Related]

  • 6. Comparison of folic acid coenzyme distribution patterns in patients with methylenetetrahydrofolate reductase and methionine synthetase deficiencies.
    Baumgartner ER, Stokstad EL, Wick SH, Watson JE, Kusano G.
    Pediatr Res; 1985 Dec; 19(12):1288-92. PubMed ID: 4080447
    [Abstract] [Full Text] [Related]

  • 7. A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.
    Wilson A, Platt R, Wu Q, Leclerc D, Christensen B, Yang H, Gravel RA, Rozen R.
    Mol Genet Metab; 1999 Aug; 67(4):317-23. PubMed ID: 10444342
    [Abstract] [Full Text] [Related]

  • 8. Homocysteine, folate enzymes and neural tube defects.
    Molloy AM, Weir DG, Scott JM.
    Haematologica; 1999 Jun; 84 Suppl EHA-4():53-6. PubMed ID: 10907468
    [No Abstract] [Full Text] [Related]

  • 9. Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
    Huemer M, Bürer C, Ješina P, Kožich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos FJ, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner MR.
    J Inherit Metab Dis; 2015 Sep; 38(5):957-67. PubMed ID: 25526710
    [Abstract] [Full Text] [Related]

  • 10. [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]

  • 11. Leukoencephalopathies associated with disorders of cobalamin and folate metabolism.
    Wilcken B.
    Semin Neurol; 2012 Feb 01; 32(1):68-74. PubMed ID: 22422209
    [Abstract] [Full Text] [Related]

  • 12. Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis.
    Fattal-Valevski A, Bassan H, Korman SH, Lerman-Sagie T, Gutman A, Harel S.
    J Child Neurol; 2000 Aug 01; 15(8):539-43. PubMed ID: 10961793
    [Abstract] [Full Text] [Related]

  • 13. Methionine synthase deficiency without megaloblastic anaemia.
    Kvittingen EA, Spangen S, Lindemans J, Fowler B.
    Eur J Pediatr; 1997 Dec 01; 156(12):925-30. PubMed ID: 9453374
    [Abstract] [Full Text] [Related]

  • 14. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
    Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C.
    J Inherit Metab Dis; 2017 Jan 01; 40(1):21-48. PubMed ID: 27905001
    [Abstract] [Full Text] [Related]

  • 15. Long term treatment with betaine in methylenetetrahydrofolate reductase deficiency.
    Ronge E, Kjellman B.
    Arch Dis Child; 1996 Mar 01; 74(3):239-41. PubMed ID: 8787431
    [Abstract] [Full Text] [Related]

  • 16. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
    Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C, EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.
    J Inherit Metab Dis; 2019 Mar 01; 42(2):333-352. PubMed ID: 30773687
    [Abstract] [Full Text] [Related]

  • 17. Methylenetetrahydrofolate reductase (MR) deficiency: thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts.
    Rosenblatt DS, Lue-Shing H, Arzoumanian A, Low-Nang L, Matiaszuk N.
    Biochem Med Metab Biol; 1992 Jun 01; 47(3):221-5. PubMed ID: 1627352
    [Abstract] [Full Text] [Related]

  • 18. Methylenetetrahydrofolate reductase and methionine synthase: biochemistry and molecular biology.
    Matthews RG, Sheppard C, Goulding C.
    Eur J Pediatr; 1998 Apr 01; 157 Suppl 2():S54-9. PubMed ID: 9587027
    [Abstract] [Full Text] [Related]

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    [No Abstract] [Full Text] [Related]

  • 20. Molecular genetics of homocysteine metabolism.
    Födinger M, Buchmayer H, Sunder-Plassmann G.
    Miner Electrolyte Metab; 1999 Apr 01; 25(4-6):269-78. PubMed ID: 10681651
    [Abstract] [Full Text] [Related]

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