-
1
-
-
0033001743
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
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