-
1
-
-
34848850451
-
The PAH gene, phenylketonuria, and a paradigm shift
-
Scriver C.R. The PAH gene, phenylketonuria, and a paradigm shift. Hum. Mutat. 2007, 28:831-845.
-
(2007)
Hum. Mutat.
, vol.28
, pp. 831-845
-
-
Scriver, C.R.1
-
2
-
-
72249122858
-
-
McGraw-Hill/Medical Publishing Division, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler (Eds.)
-
Donlon J., Levy H.L., Scriver C.R. Hyperphenylalanine: Phenylalanine Hydroxylase Deficiency 2010, McGraw-Hill/Medical Publishing Division, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler (Eds.).
-
(2010)
Hyperphenylalanine: Phenylalanine Hydroxylase Deficiency
-
-
Donlon, J.1
Levy, H.L.2
Scriver, C.R.3
-
3
-
-
0029786261
-
Recommendations for protein and amino acid intake in phenylketonuric patients
-
Cockburn F., Clark B.J. Recommendations for protein and amino acid intake in phenylketonuric patients. Eur. J. Pediatr. 1996, 155(Suppl. 1):S125-129.
-
(1996)
Eur. J. Pediatr.
, vol.155
, Issue.SUPPL. 1
-
-
Cockburn, F.1
Clark, B.J.2
-
4
-
-
0033835384
-
Comments on diet and compliance in phenylketonuria
-
Fisch R.O. Comments on diet and compliance in phenylketonuria. Eur. J. Pediatr. 2000, 159(Suppl. 2):S142-144.
-
(2000)
Eur. J. Pediatr.
, vol.159
, Issue.SUPPL. 2
-
-
Fisch, R.O.1
-
5
-
-
0037031064
-
How practical are recommendations for dietary control in phenylketonuria?
-
Walter J.H., White F.J., Hall S.K., MacDonald A., Rylance G., Boneh A., Francis D.E., Shortland G.J., Schmidt M., Vail A. How practical are recommendations for dietary control in phenylketonuria?. Lancet 2002, 360:55-57.
-
(2002)
Lancet
, vol.360
, pp. 55-57
-
-
Walter, J.H.1
White, F.J.2
Hall, S.K.3
MacDonald, A.4
Rylance, G.5
Boneh, A.6
Francis, D.E.7
Shortland, G.J.8
Schmidt, M.9
Vail, A.10
-
6
-
-
10044279157
-
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations
-
Erlandsen H., Pey A.L., Gamez A., Perez B., Desviat L.R., Aguado C., Koch R., Surendran S., Tyring S., Matalon R., Scriver C.R., Ugarte M., Martinez A., Stevens R.C. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc. Natl. Acad. Sci. U. S. A. 2004, 101:16903-16908.
-
(2004)
Proc. Natl. Acad. Sci. U. S. A.
, vol.101
, pp. 16903-16908
-
-
Erlandsen, H.1
Pey, A.L.2
Gamez, A.3
Perez, B.4
Desviat, L.R.5
Aguado, C.6
Koch, R.7
Surendran, S.8
Tyring, S.9
Matalon, R.10
Scriver, C.R.11
Ugarte, M.12
Martinez, A.13
Stevens, R.C.14
-
7
-
-
0037180758
-
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria
-
Muntau A.C., Roschinger W., Habich M., Demmelmair H., Hoffmann B., Sommerhoff C.P., Roscher A.A. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N. Engl. J. Med. 2002, 347:2122-2132.
-
(2002)
N. Engl. J. Med.
, vol.347
, pp. 2122-2132
-
-
Muntau, A.C.1
Roschinger, W.2
Habich, M.3
Demmelmair, H.4
Hoffmann, B.5
Sommerhoff, C.P.6
Roscher, A.A.7
-
8
-
-
35248882919
-
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study
-
Burton B.K., Grange D.K., Milanowski A., Vockley G., Feillet F., Crombez E.A., Abadie V., Harding C.O., Cederbaum S., Dobbelaere D., Smith A., Dorenbaum A. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J. Inherit. Metab. Dis. 2007, 30:700-707.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 700-707
-
-
Burton, B.K.1
Grange, D.K.2
Milanowski, A.3
Vockley, G.4
Feillet, F.5
Crombez, E.A.6
Abadie, V.7
Harding, C.O.8
Cederbaum, S.9
Dobbelaere, D.10
Smith, A.11
Dorenbaum, A.12
-
9
-
-
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
-
10
-
-
10744223043
-
Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase
-
Gamez A., Wang L., Straub M., Patch M.G., Stevens R.C. Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase. Mol. Ther. 2004, 9:124-129.
-
(2004)
Mol. Ther.
, vol.9
, pp. 124-129
-
-
Gamez, A.1
Wang, L.2
Straub, M.3
Patch, M.G.4
Stevens, R.C.5
-
11
-
-
28944448887
-
Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now?
-
Sarkissian C.N., Gamez A. Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now?. Mol. Genet. Metab. 2005, 86(Suppl. 1):S22-26.
-
(2005)
Mol. Genet. Metab.
, vol.86
, Issue.SUPPL. 1
-
-
Sarkissian, C.N.1
Gamez, A.2
-
12
-
-
58549094507
-
Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria
-
Sarkissian C.N., Gamez A., Wang L., Charbonneau M., Fitzpatrick P., Lemontt J.F., Zhao B., Vellard M., Bell S.M., Henschell C., Lambert A., Tsuruda L., Stevens R.C., Scriver C.R. Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria. Proc. Natl. Acad. Sci. U. S. A. 2008, 105:20894-20899.
-
(2008)
Proc. Natl. Acad. Sci. U. S. A.
, vol.105
, pp. 20894-20899
-
-
Sarkissian, C.N.1
Gamez, A.2
Wang, L.3
Charbonneau, M.4
Fitzpatrick, P.5
Lemontt, J.F.6
Zhao, B.7
Vellard, M.8
Bell, S.M.9
Henschell, C.10
Lambert, A.11
Tsuruda, L.12
Stevens, R.C.13
Scriver, C.R.14
-
13
-
-
0033514997
-
A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase
-
Sarkissian C.N., Shao Z., Blain F., Peevers R., Su H., Heft R., Chang T.M., Scriver C.R. A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc. Natl. Acad. Sci. U. S. A. 1999, 96:2339-2344.
-
(1999)
Proc. Natl. Acad. Sci. U. S. A.
, vol.96
, pp. 2339-2344
-
-
Sarkissian, C.N.1
Shao, Z.2
Blain, F.3
Peevers, R.4
Su, H.5
Heft, R.6
Chang, T.M.7
Scriver, C.R.8
-
14
-
-
0020068410
-
Phenylalanine ammonia lyase in the management of phenylketonuria: the relationship between ingested cinnamate and urinary hippurate in humans
-
Hoskins J.A., Gray J. Phenylalanine ammonia lyase in the management of phenylketonuria: the relationship between ingested cinnamate and urinary hippurate in humans. Res. Commun. Chem. Pathol. Pharmacol. 1982, 35:275-282.
-
(1982)
Res. Commun. Chem. Pathol. Pharmacol.
, vol.35
, pp. 275-282
-
-
Hoskins, J.A.1
Gray, J.2
-
15
-
-
45649083496
-
Structural and biochemical characterization of the therapeutic Anabaena variabilis phenylalanine ammonia lyase
-
Wang L., Gamez A., Archer H., Abola E.E., Sarkissian C.N., Fitzpatrick P., Wendt D., Zhang Y., Vellard M., Bliesath J., Bell S.M., Lemontt J.F., Scriver C.R., Stevens R.C. Structural and biochemical characterization of the therapeutic Anabaena variabilis phenylalanine ammonia lyase. J. Mol. Biol. 2008, 380:623-635.
-
(2008)
J. Mol. Biol.
, vol.380
, pp. 623-635
-
-
Wang, L.1
Gamez, A.2
Archer, H.3
Abola, E.E.4
Sarkissian, C.N.5
Fitzpatrick, P.6
Wendt, D.7
Zhang, Y.8
Vellard, M.9
Bliesath, J.10
Bell, S.M.11
Lemontt, J.F.12
Scriver, C.R.13
Stevens, R.C.14
-
16
-
-
0021647360
-
Artificial cell-microencapsulated phenylalanine ammonia-lyase
-
Bourget L., Chang T.M. Artificial cell-microencapsulated phenylalanine ammonia-lyase. Appl. Biochem. Biotechnol. 1984, 10:57-59.
-
(1984)
Appl. Biochem. Biotechnol.
, vol.10
, pp. 57-59
-
-
Bourget, L.1
Chang, T.M.2
-
17
-
-
0018135218
-
Phenylalanine depletion for the management of phenylketonuria: use of enzyme reactors with immobilized enzymes
-
Ambrus C.M., Ambrus J.L., Horvath C., Pedersen H., Sharma S., Kant C., Mirand E., Guthrie R., Paul T. Phenylalanine depletion for the management of phenylketonuria: use of enzyme reactors with immobilized enzymes. Science (New York, N.Y) 1978, 201:837-839.
-
(1978)
Science (New York, N.Y)
, vol.201
, pp. 837-839
-
-
Ambrus, C.M.1
Ambrus, J.L.2
Horvath, C.3
Pedersen, H.4
Sharma, S.5
Kant, C.6
Mirand, E.7
Guthrie, R.8
Paul, T.9
-
18
-
-
71949122812
-
Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria
-
Kang T.S., Wang L., Sarkissian C.N., Gamez A., Scriver C.R., Stevens R.C. Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria. Mol. Genet. Metab. 2010, 99:4-9.
-
(2010)
Mol. Genet. Metab.
, vol.99
, pp. 4-9
-
-
Kang, T.S.1
Wang, L.2
Sarkissian, C.N.3
Gamez, A.4
Scriver, C.R.5
Stevens, R.C.6
-
19
-
-
0024262589
-
Cellular uptake of the TAT protein from human immunodeficiency virus
-
Frankel A.D., Pabo C.O. Cellular uptake of the TAT protein from human immunodeficiency virus. Cell 1988, 55:1189-1193.
-
(1988)
Cell
, vol.55
, pp. 1189-1193
-
-
Frankel, A.D.1
Pabo, C.O.2
-
20
-
-
0024209811
-
Autonomous functional domains of chemically synthesized human immunodeficiency virus tat trans-activator protein
-
Green M., Loewenstein P.M. Autonomous functional domains of chemically synthesized human immunodeficiency virus tat trans-activator protein. Cell 1988, 55:1179-1188.
-
(1988)
Cell
, vol.55
, pp. 1179-1188
-
-
Green, M.1
Loewenstein, P.M.2
-
21
-
-
0035863391
-
Synthetic protein transduction domains: enhanced transduction potential in vitro and in vivo
-
Ho A., Schwarze S.R., Mermelstein S.J., Waksman G., Dowdy S.F. Synthetic protein transduction domains: enhanced transduction potential in vitro and in vivo. Cancer res. 2001, 61:474-477.
-
(2001)
Cancer res.
, vol.61
, pp. 474-477
-
-
Ho, A.1
Schwarze, S.R.2
Mermelstein, S.J.3
Waksman, G.4
Dowdy, S.F.5
-
22
-
-
35549012407
-
Oral bioavailability of insulin contained in polysaccharide nanoparticles
-
Sarmento B., Ribeiro A., Veiga F., Ferreira D., Neufeld R. Oral bioavailability of insulin contained in polysaccharide nanoparticles. Biomacromolecules 2007, 8:3054-3060.
-
(2007)
Biomacromolecules
, vol.8
, pp. 3054-3060
-
-
Sarmento, B.1
Ribeiro, A.2
Veiga, F.3
Ferreira, D.4
Neufeld, R.5
-
23
-
-
20144366276
-
Ionotropic alginate beads for controlled intestinal protein delivery: effect of chitosan and barium counter-ions on entrapment and release
-
Bhopatkar D., Anal A.K., Stevens W.F. Ionotropic alginate beads for controlled intestinal protein delivery: effect of chitosan and barium counter-ions on entrapment and release. J. Microencapsul. 2005, 22:91-100.
-
(2005)
J. Microencapsul.
, vol.22
, pp. 91-100
-
-
Bhopatkar, D.1
Anal, A.K.2
Stevens, W.F.3
-
24
-
-
33744543109
-
Effect of Ca2+, Ba2+, and Sr2+ on alginate microbeads
-
Morch Y.A., Donati I., Strand B.L., Skjak-Braek G. Effect of Ca2+, Ba2+, and Sr2+ on alginate microbeads. Biomacromolecules 2006, 7:1471-1480.
-
(2006)
Biomacromolecules
, vol.7
, pp. 1471-1480
-
-
Morch, Y.A.1
Donati, I.2
Strand, B.L.3
Skjak-Braek, G.4
-
25
-
-
0038784356
-
Formation of alginate microspheres produced using emulsification technique
-
Heng P.W., Chan L.W., Wong T.W. Formation of alginate microspheres produced using emulsification technique. J. Microencapsul. 2003, 20:401-413.
-
(2003)
J. Microencapsul.
, vol.20
, pp. 401-413
-
-
Heng, P.W.1
Chan, L.W.2
Wong, T.W.3
-
26
-
-
0027295348
-
Mouse models of human phenylketonuria
-
Shedlovsky A., McDonald J.D., Symula D., Dove W.F. Mouse models of human phenylketonuria. Genetics 1993, 134:1205-1210.
-
(1993)
Genetics
, vol.134
, pp. 1205-1210
-
-
Shedlovsky, A.1
McDonald, J.D.2
Symula, D.3
Dove, W.F.4
-
27
-
-
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
-
28
-
-
0001711681
-
Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria
-
Armstrong M.D., Tyler F.H. Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria. J. Clin. Invest. 1955, 34:565-580.
-
(1955)
J. Clin. Invest.
, vol.34
, pp. 565-580
-
-
Armstrong, M.D.1
Tyler, F.H.2
-
29
-
-
0003042138
-
The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child
-
Bickel H., Gerrard J., Hickmans E.M. The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child. Acta Paediatr. 1954, 43:64-77.
-
(1954)
Acta Paediatr.
, vol.43
, pp. 64-77
-
-
Bickel, H.1
Gerrard, J.2
Hickmans, E.M.3
-
30
-
-
0002424530
-
Treatment of phenylketonuria with a diet low in phenylalanine
-
Woolf L.I., Griffiths R., Moncrieff A. Treatment of phenylketonuria with a diet low in phenylalanine. Br. Med. J. 1955, 1:57-64.
-
(1955)
Br. Med. J.
, vol.1
, pp. 57-64
-
-
Woolf, L.I.1
Griffiths, R.2
Moncrieff, A.3
-
31
-
-
75449123150
-
A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
-
Guthrie R., Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963, 32:338-343.
-
(1963)
Pediatrics
, vol.32
, pp. 338-343
-
-
Guthrie, R.1
Susi, A.2
-
33
-
-
0021266299
-
The metabolism of cinnamic acid by healthy and phenylketonuric adults: a kinetic study
-
Hoskins J.A., Holliday S.B., Greenway A.M. The metabolism of cinnamic acid by healthy and phenylketonuric adults: a kinetic study. Biomed. Mass Spectrom. 1984, 11:296-300.
-
(1984)
Biomed. Mass Spectrom.
, vol.11
, pp. 296-300
-
-
Hoskins, J.A.1
Holliday, S.B.2
Greenway, A.M.3
-
34
-
-
34447268200
-
Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria
-
Gamez A., Wang L., Sarkissian C.N., Wendt D., Fitzpatrick P., Lemontt J.F., Scriver C.R., Stevens R.C. Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria. Mol. Genet. Metab. 2007, 91:325-334.
-
(2007)
Mol. Genet. Metab.
, vol.91
, pp. 325-334
-
-
Gamez, A.1
Wang, L.2
Sarkissian, C.N.3
Wendt, D.4
Fitzpatrick, P.5
Lemontt, J.F.6
Scriver, C.R.7
Stevens, R.C.8
-
35
-
-
26244450676
-
Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria
-
Wang L., Gamez A., Sarkissian C.N., Straub M., Patch M.G., Han G.W., Striepeke S., Fitzpatrick P., Scriver C.R., Stevens R.C. Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria. Mol. Genet. Metab. 2005, 86:134-140.
-
(2005)
Mol. Genet. Metab.
, vol.86
, pp. 134-140
-
-
Wang, L.1
Gamez, A.2
Sarkissian, C.N.3
Straub, M.4
Patch, M.G.5
Han, G.W.6
Striepeke, S.7
Fitzpatrick, P.8
Scriver, C.R.9
Stevens, R.C.10
-
36
-
-
21144457069
-
Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria
-
Gamez A., Sarkissian C.N., Wang L., Kim W., Straub M., Patch M.G., Chen L., Striepeke S., Fitzpatrick P., Lemontt J.F., O'Neill C., Scriver C.R., Stevens R.C. Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria. Mol. Ther. 2005, 11:986-989.
-
(2005)
Mol. Ther.
, vol.11
, pp. 986-989
-
-
Gamez, A.1
Sarkissian, C.N.2
Wang, L.3
Kim, W.4
Straub, M.5
Patch, M.G.6
Chen, L.7
Striepeke, S.8
Fitzpatrick, P.9
Lemontt, J.F.10
O'Neill, C.11
Scriver, C.R.12
Stevens, R.C.13
-
37
-
-
0017303539
-
Phenylalanine ammonia-lyase. Induction and purification from yeast and clearance in mammals
-
Fritz R.R., Hodgins D.S., Abell C.W. Phenylalanine ammonia-lyase. Induction and purification from yeast and clearance in mammals. J. Biol. Chem. 1976, 251:4646-4650.
-
(1976)
J. Biol. Chem.
, vol.251
, pp. 4646-4650
-
-
Fritz, R.R.1
Hodgins, D.S.2
Abell, C.W.3
-
38
-
-
84961415289
-
A new theory of enterorecirculation of amino acids and its use for depleting unwanted amino acids using oral enzyme-artificial cells, as in removing phenylalanine in phenylketonuria
-
Chang T.M., Bourget L., Lister C. A new theory of enterorecirculation of amino acids and its use for depleting unwanted amino acids using oral enzyme-artificial cells, as in removing phenylalanine in phenylketonuria. Artif. Cells Blood Substit. Immobi.l Biotechnol. 1995, 23:1-21.
-
(1995)
Artif. Cells Blood Substit. Immobi.l Biotechnol.
, vol.23
, pp. 1-21
-
-
Chang, T.M.1
Bourget, L.2
Lister, C.3
-
39
-
-
0012813996
-
The bovine basic pancreatic trypsin inhibitor (Kunitz inhibitor): a milestone protein
-
Ascenzi P., Bocedi A., Bolognesi M., Spallarossa A., Coletta M., De Cristofaro R., Menegatti E. The bovine basic pancreatic trypsin inhibitor (Kunitz inhibitor): a milestone protein. Curr. Protein Pept. Sci. 2003, 4:231-251.
-
(2003)
Curr. Protein Pept. Sci.
, vol.4
, pp. 231-251
-
-
Ascenzi, P.1
Bocedi, A.2
Bolognesi, M.3
Spallarossa, A.4
Coletta, M.5
De Cristofaro, R.6
Menegatti, E.7
|