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Volumn 169, Issue 2, 2010, Pages 241-243

Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency

Author keywords

5,10 methylenetetrahydrofolate reductase deficiency; Betaine; Daily dose frequency

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BETAINE; CARNITINE; FOLIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHIONINE; PYRIDOXINE;

EID: 77949424856     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-009-0997-x     Document Type: Article
Times cited : (8)

References (12)
  • 1
    • 0033001743 scopus 로고    scopus 로고
    • Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency
    • Abeling NG, van Gennip AH, Blom H et al (1999) Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency. J Inherit Metab Dis 22:240-242.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 240-242
    • Abeling, N.G.1    Van Gennip, A.H.2    Blom, H.3
  • 2
    • 0036020709 scopus 로고    scopus 로고
    • An early onset form of methylenetetrahydrofolate reductase deficiency: A report of a family from Kuwait
    • Al Tawari AA, Ramadan DG, Neubauer D et al (2002) An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait. Brain Dev 24:304- 309.
    • (2002) Brain Dev , vol.24 , pp. 304-309
    • Al Tawari, A.A.1    Ramadan, D.G.2    Neubauer, D.3
  • 3
    • 0024359963 scopus 로고
    • Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency
    • Holme E, Kjellman B, Ronge E (1989) Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency. Arch Dis Child 64:1061-1064.
    • (1989) Arch Dis Child , vol.64 , pp. 1061-1064
    • Holme, E.1    Kjellman, B.2    Ronge, E.3
  • 4
    • 33745511245 scopus 로고    scopus 로고
    • The use of betaine in the treatment of elevated homocysteine
    • Lawson-Yuen A, Levy HL (2006) The use of betaine in the treatment of elevated homocysteine. Mol Genet Metab 88:201-207.
    • (2006) Mol Genet Metab , vol.88 , pp. 201-207
    • Lawson-Yuen, A.1    Levy, H.L.2
  • 5
    • 0036040526 scopus 로고    scopus 로고
    • An indirect response model of homocysteine suppression by betaine: Optimising the dosage regimen of betaine in homocystinuria
    • Matthews A, Johnson TN, Rostami-Hodjegan A et al (2002) An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria. Br J Clin Pharmacol 54(2):140-146.
    • (2002) Br J Clin Pharmacol , vol.54 , Issue.2 , pp. 140-146
    • Matthews, A.1    Johnson, T.N.2    Rostami-Hodjegan, A.3
  • 6
    • 0015530475 scopus 로고
    • Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity
    • Mudd SH, Uhlendorf BW, Freeman JM et al (1972) Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity. Biochem Biophys Res Commun 46:905-912.
    • (1972) Biochem Biophys Res Commun , vol.46 , pp. 905-912
    • Mudd, S.H.1    Uhlendorf, B.W.2    Freeman, J.M.3
  • 7
    • 0031985357 scopus 로고    scopus 로고
    • Betaine dose and treatment intervals in therapy for homocystinuria due to 5, 10-methylenetetrahydrofolate reductase deficiency
    • Sakura N, Ono H, Nomura S et al (1998) Betaine dose and treatment intervals in therapy for homocystinuria due to 5, 10-methylenetetrahydrofolate reductase deficiency. J Inherit Metab Dis 21:84-85.
    • (1998) J Inherit Metab Dis , vol.21 , pp. 84-85
    • Sakura, N.1    Ono, H.2    Nomura, S.3
  • 8
    • 0037241172 scopus 로고    scopus 로고
    • Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria
    • Schwahn BC, Hafner D, Hohlfeld T et al (2003) Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria. Br J Clin Pharmacol 55(1):6-13.
    • (2003) Br J Clin Pharmacol , vol.55 , Issue.1 , pp. 6-13
    • Schwahn, B.C.1    Hafner, D.2    Hohlfeld, T.3
  • 9
    • 0020491455 scopus 로고
    • Human hepatic methionine biosynthesis
    • Skiba WE, Taylor MP, Wells MS et al (1982) Human hepatic methionine biosynthesis. J Biol Chem 257:14944-14948.
    • (1982) J Biol Chem , vol.257 , pp. 14944-14948
    • Skiba, W.E.1    Taylor, M.P.2    Wells, M.S.3
  • 10
    • 0000284020 scopus 로고    scopus 로고
    • Blood-brain barrier amino acid transport
    • Pardridge WM(ed), Cambridge, Cambridge University Press
    • Smith QR, Stoll JS (1998) Blood-brain barrier amino acid transport. In: Pardridge WM(ed) Introduction to the blood-brain barrier, vol. 1. Cambridge, Cambridge University Press, pp 188-197.
    • (1998) Introduction to the Blood-brain Barrier , vol.1 , pp. 188-197
    • Smith, Q.R.1    Stoll, J.S.2
  • 11
    • 34248587051 scopus 로고    scopus 로고
    • Prevention of brain disease from severe 5, 10-methylenetetrahydrofolate reductase deficiency
    • Strauss KA, Morton DH, Puffenberger EG et al (2007) Prevention of brain disease from severe 5, 10-methylenetetrahydrofolate reductase deficiency. Mol Genet Metab 91:165-175.
    • (2007) Mol Genet Metab , vol.91 , pp. 165-175
    • Strauss, K.A.1    Morton, D.H.2    Puffenberger, E.G.3
  • 12
    • 0021267379 scopus 로고
    • Betaine in the treatment of homocystinuria due to 5, 10- methylenetetrahydrofolate reductase deficiency
    • Wendel U, Bremer HI (1984) Betaine in the treatment of homocystinuria due to 5, 10-methylenetetrahydrofolate reductase deficiency. Eur J Pediatr 142:147-150.
    • (1984) Eur J Pediatr , vol.142 , pp. 147-150
    • Wendel, U.1    Bremer I, H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.