-
1
-
-
34547697475
-
Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study
-
Levy H.L., Milanowski A., Chakrapani A., Cleary M., Lee P., Trefz F.K., Whitley C.B., Feillet F., Feigenbaum A.S., Bebchuk J.D., Christ-Schmidt H., Dorenbaum A. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet 2007, 370:504-510.
-
(2007)
Lancet
, vol.370
, pp. 504-510
-
-
Levy, H.L.1
Milanowski, A.2
Chakrapani, A.3
Cleary, M.4
Lee, P.5
Trefz, F.K.6
Whitley, C.B.7
Feillet, F.8
Feigenbaum, A.S.9
Bebchuk, J.D.10
Christ-Schmidt, H.11
Dorenbaum, A.12
-
2
-
-
0026069139
-
Intellectual development in 12-year-old children treated for phenylketonuria
-
Azen C.G., Koch R., Friedman E.G., Berlow S., Coldwell J., Krause W., Matalon R., McCabe E., O'Flynn M., Peterson R. Intellectual development in 12-year-old children treated for phenylketonuria. Am. J. Dis. Child. 1991, 145:35-39.
-
(1991)
Am. J. Dis. Child.
, vol.145
, pp. 35-39
-
-
Azen, C.G.1
Koch, R.2
Friedman, E.G.3
Berlow, S.4
Coldwell, J.5
Krause, W.6
Matalon, R.7
McCabe, E.8
O'Flynn, M.9
Peterson, R.10
-
3
-
-
47149088106
-
Progress toward cell-directed therapy for phenylketonuria
-
Harding C. Progress toward cell-directed therapy for phenylketonuria. Clin. Genet. 2008, 74:97-104.
-
(2008)
Clin. Genet.
, vol.74
, pp. 97-104
-
-
Harding, C.1
-
5
-
-
22644447675
-
Low therapeutic threshold for hepatocyte replacement in murine phenylketonuria
-
Hamman K., Clark H., Montini E., al-Dhalimy M., Grompe M., Finegold M., Harding C.O. Low therapeutic threshold for hepatocyte replacement in murine phenylketonuria. Molec Therapy 2005, 12:337-344.
-
(2005)
Molec Therapy
, vol.12
, pp. 337-344
-
-
Hamman, K.1
Clark, H.2
Montini, E.3
al-Dhalimy, M.4
Grompe, M.5
Finegold, M.6
Harding, C.O.7
-
6
-
-
0036928286
-
Principles of hepatocyte repopulation
-
Laconi E., Laconi S. Principles of hepatocyte repopulation. Semin. Cell Dev. Biol. 2002, 13:433-438.
-
(2002)
Semin. Cell Dev. Biol.
, vol.13
, pp. 433-438
-
-
Laconi, E.1
Laconi, S.2
-
7
-
-
0031081364
-
Characterization of mutations at the mouse phenylalanine hydroxylase locus
-
McDonald J.D., Charlton C.K. Characterization of mutations at the mouse phenylalanine hydroxylase locus. Genomics 1997, 39:402-405.
-
(1997)
Genomics
, vol.39
, pp. 402-405
-
-
McDonald, J.D.1
Charlton, C.K.2
-
8
-
-
0027137419
-
Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice
-
Grompe M., al-Dhalimy M., Finegold M., Ou C.N., Burlingame T., Kennaway N.G., Soriano P. Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice. Genes Dev. 1993, 7:2298-2307.
-
(1993)
Genes Dev.
, vol.7
, pp. 2298-2307
-
-
Grompe, M.1
al-Dhalimy, M.2
Finegold, M.3
Ou, C.N.4
Burlingame, T.5
Kennaway, N.G.6
Soriano, P.7
-
9
-
-
0031834511
-
Metabolic engineering as therapy for inborn errors of metabolism - development of mice with phenylalanine hydroxylase expression in muscle
-
Harding C.O., Wild K., Chang D., Messing A., Wolff J.A. Metabolic engineering as therapy for inborn errors of metabolism - development of mice with phenylalanine hydroxylase expression in muscle. Gene Ther. 1998, 5:677-683.
-
(1998)
Gene Ther.
, vol.5
, pp. 677-683
-
-
Harding, C.O.1
Wild, K.2
Chang, D.3
Messing, A.4
Wolff, J.A.5
-
10
-
-
0026812816
-
Retroviral-mediated gene transfer of human ornithine transcarbamylase into primary hepatocytes of spf and spf-ash mice
-
Grompe M., Jones S.N., Loulseged H., Caskey C.T. Retroviral-mediated gene transfer of human ornithine transcarbamylase into primary hepatocytes of spf and spf-ash mice. Hum. Gene Ther. 1992, 3:35-44.
-
(1992)
Hum. Gene Ther.
, vol.3
, pp. 35-44
-
-
Grompe, M.1
Jones, S.N.2
Loulseged, H.3
Caskey, C.T.4
-
11
-
-
0026031297
-
Mouse hepatocytes migrate to liver parenchyma and function indefinitely after intrasplenic transplantation
-
Ponder K.P., Gupta S., Leland F., Darlington G., Finegold M., DeMayo J., Ledley F.D., Chowdhury J.R., Woo S.L. Mouse hepatocytes migrate to liver parenchyma and function indefinitely after intrasplenic transplantation. Proc. Natl. Acad. Sci. U.S.A. 1991, 88:1217-1221.
-
(1991)
Proc. Natl. Acad. Sci. U.S.A.
, vol.88
, pp. 1217-1221
-
-
Ponder, K.P.1
Gupta, S.2
Leland, F.3
Darlington, G.4
Finegold, M.5
DeMayo, J.6
Ledley, F.D.7
Chowdhury, J.R.8
Woo, S.L.9
-
12
-
-
1542560237
-
Fluorimetric method for the determination of phenylalanine in serum
-
McCaman M.W., Robins E. Fluorimetric method for the determination of phenylalanine in serum. J. Lab. Clin. Med. 1962, 59:885-890.
-
(1962)
J. Lab. Clin. Med.
, vol.59
, pp. 885-890
-
-
McCaman, M.W.1
Robins, E.2
-
13
-
-
0023179599
-
Selection for phenylalanine hydroxylase activity in cells transformed with recombinant retroviruses
-
Ledley F.D., Hahn T., Woo S.L. Selection for phenylalanine hydroxylase activity in cells transformed with recombinant retroviruses. Somat. Cell Mol. Genet. 1987, 13:145-154.
-
(1987)
Somat. Cell Mol. Genet.
, vol.13
, pp. 145-154
-
-
Ledley, F.D.1
Hahn, T.2
Woo, S.L.3
-
14
-
-
0022552607
-
Quantification of the importance of individual steps in the control of aromatic amino acid metabolism
-
Salter M., Knowles R.G., Pogson C.I. Quantification of the importance of individual steps in the control of aromatic amino acid metabolism. Biochem. J. 1986, 234:635-647.
-
(1986)
Biochem. J.
, vol.234
, pp. 635-647
-
-
Salter, M.1
Knowles, R.G.2
Pogson, C.I.3
-
15
-
-
0032508585
-
Expression cloning and characterization of a transporter for large neutral amino acids activated by the heavy chain of 4F2 antigen (CD98)
-
Kanai Y., Segawa H., Miyamoto K., Uchino H., Takeda E., Endou H. Expression cloning and characterization of a transporter for large neutral amino acids activated by the heavy chain of 4F2 antigen (CD98). J. Biol. Chem. 1998, 273:23629-23632.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 23629-23632
-
-
Kanai, Y.1
Segawa, H.2
Miyamoto, K.3
Uchino, H.4
Takeda, E.5
Endou, H.6
-
16
-
-
0032541636
-
Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family
-
Mastroberardino L., Spindler B., Pfeiffer R., Skelly P.J., Loffing J., Shoemaker C.B., Verrey F. Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family. Nature 1998, 395:288-291.
-
(1998)
Nature
, vol.395
, pp. 288-291
-
-
Mastroberardino, L.1
Spindler, B.2
Pfeiffer, R.3
Skelly, P.J.4
Loffing, J.5
Shoemaker, C.B.6
Verrey, F.7
-
17
-
-
82455192159
-
Evidence for dominant-negative interference in the Pahenu2 mouse model of PKU
-
Charron C.E., Lewin A.S., Laipis P.J. Evidence for dominant-negative interference in the Pahenu2 mouse model of PKU. Molec. Ther. 2004, 9(Suppl 1):S334.
-
(2004)
Molec. Ther.
, vol.9
, Issue.SUPPL 1
-
-
Charron, C.E.1
Lewin, A.S.2
Laipis, P.J.3
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