-
1
-
-
0000059155
-
The hyperphenylalaninemias
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, editors. McGraw-Hill Inc., New York
-
Scriver, C.R., S. Kaufman, and S.L.C. Woo. 1995. The hyperphenylalaninemias. In The Metabolic Basis of Inherited Disease, 7th edition. C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, editors. McGraw-Hill Inc., New York. 1015-1075.
-
(1995)
The Metabolic Basis of Inherited Disease, 7th Edition
, pp. 1015-1075
-
-
Scriver, C.R.1
Kaufman, S.2
Woo, S.L.C.3
-
2
-
-
0002454383
-
Hyperphenylalaninaemias
-
J. Fernandes, J.-M. Saudubray, and G. van den Berghe, editors. Springer-Verlag, Berlin
-
Smith, I., and D.P. Brenton. 1995. Hyperphenylalaninaemias. In Inborn Metabolic Diseases: Diagnosis and Treatment, 2nd edition. J. Fernandes, J.-M. Saudubray, and G. van den Berghe, editors. Springer-Verlag, Berlin. 47-60.
-
(1995)
Inborn Metabolic Diseases: Diagnosis and Treatment, 2nd Edition
, pp. 47-60
-
-
Smith, I.1
Brenton, D.P.2
-
3
-
-
0008956323
-
Phenylketonuria and hyperphenylalaninemia. Hyperphenylalaninaemias
-
J. Fernandes, J.-M. Saudubray, and G. van den Berghe, editors. Springer-Verlag, Berlin
-
Güttler, F., and H. Lou. 1989 Phenylketonuria and hyperphenylalaninemia. Hyperphenylalaninaemias. In Inborn Metabolic Diseases: Diagnosis and Treatment, 1st edition. J. Fernandes, J.-M. Saudubray, and G. van den Berghe, editors. Springer-Verlag, Berlin. 161-174.
-
(1989)
Inborn Metabolic Diseases: Diagnosis and Treatment, 1st Edition
, pp. 161-174
-
-
Güttler, F.1
Lou, H.2
-
4
-
-
0018568241
-
Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography
-
Trefz, F.K., T. Erlenmaier, D.H. Hunneman, K. Bartholome, and P. Lutz. 1979. Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography. Clin. Chim. Acta. 99:211-230.
-
(1979)
Clin. Chim. Acta
, vol.99
, pp. 211-230
-
-
Trefz, F.K.1
Erlenmaier, T.2
Hunneman, D.H.3
Bartholome, K.4
Lutz, P.5
-
5
-
-
0016707505
-
Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia
-
Bartholome, K., P. Lutz, and H. Bickel. 1975. Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia. Pediatr. Res. 9:899-903.
-
(1975)
Pediatr. Res.
, vol.9
, pp. 899-903
-
-
Bartholome, K.1
Lutz, P.2
Bickel, H.3
-
8
-
-
0019974496
-
13C]-tyrosine in the postabsorptive state
-
13C]-tyrosine in the postabsorptive state. Metabolism. 31:999-1005.
-
(1982)
Metabolism
, vol.31
, pp. 999-1005
-
-
Clarke, J.T.R.1
Bier, D.M.2
-
9
-
-
0025313161
-
Significant phenylalanine hydruxylalion in vivo in patients with classical phenylketonuria
-
Thompson, G.N., and D. Halliday. 1990. Significant phenylalanine hydruxylalion in vivo in patients with classical phenylketonuria. J. Clin. Invest. 86: 317-322.
-
(1990)
J. Clin. Invest.
, vol.86
, pp. 317-322
-
-
Thompson, G.N.1
Halliday, D.2
-
10
-
-
0024989629
-
In vivo enzyme activity in inborn errors of metabolism
-
Thompson, G.N., J.H. Walter, J.V. Leonard, and D. Halliday. 1990. In vivo enzyme activity in inborn errors of metabolism. Metabolism. 39:799-807.
-
(1990)
Metabolism
, vol.39
, pp. 799-807
-
-
Thompson, G.N.1
Walter, J.H.2
Leonard, J.V.3
Halliday, D.4
-
11
-
-
0029792599
-
In-vivo disposal of phenylalanine in phenylketonuria: A study of two siblings
-
Treacy, E., J.J. Pitt, K. Seller, G.N. Thompson, S. Ramus, and R.G.H. Cotton. 1996. In-vivo disposal of phenylalanine in phenylketonuria: a study of two siblings. J. Inherited Metab. Dis. 19:595-602.
-
(1996)
J. Inherited Metab. Dis.
, vol.19
, pp. 595-602
-
-
Treacy, E.1
Pitt, J.J.2
Seller, K.3
Thompson, G.N.4
Ramus, S.5
Cotton, R.G.H.6
-
12
-
-
0019288144
-
Hyperphenylalaninemia. Diagnosis and classification of various types of phenylalanine hydroxylase deficiency in childhood
-
Güttler, F. 1980. Hyperphenylalaninemia. Diagnosis and classification of various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr. Scand. 280:1-80.
-
(1980)
Acta Paediatr. Scand.
, vol.280
, pp. 1-80
-
-
Güttler, F.1
-
13
-
-
0002461635
-
Growth diagrams: Netherlands third nation-wide survey
-
Roede, M.J., and J.C. van Wieringen. 1985. Growth diagrams: Netherlands third nation-wide survey. Tijdschr. Soc. Gezondheidszorg. 63(Suppl.):1-34.
-
(1985)
Tijdschr. Soc. Gezondheidszorg.
, vol.63
, Issue.SUPPL.
, pp. 1-34
-
-
Roede, M.J.1
Van Wieringen, J.C.2
-
14
-
-
0001147544
-
Radioactive and Stable Isotope Tracers in Biomedicine
-
Wiley-Liss, Inc. New York
-
Wolfe, R.R. 1992. Radioactive and Stable Isotope Tracers in Biomedicine. Principles and Practice of Kinetic Analysis. Wiley-Liss, Inc. New York. 471 pp.
-
(1992)
Principles and Practice of Kinetic Analysis
-
-
Wolfe, R.R.1
-
15
-
-
2642679501
-
A new method for the determination of L-DOPA and 3-O-methyldopa in plasma and cerebrospinal fluid using gas chromatography and electron capture negative ion mass spectrometry
-
de Jong, A.P.J.M., R.M. Kok, C.A. Cramers, S.K. Wadman, and E. Haan. 1981. A new method for the determination of L-DOPA and 3-O-methyldopa in plasma and cerebrospinal fluid using gas chromatography and electron capture negative ion mass spectrometry. Clin. Chim. Acta. 171:50-62.
-
(1981)
Clin. Chim. Acta
, vol.171
, pp. 50-62
-
-
De Jong, A.P.J.M.1
Kok, R.M.2
Cramers, C.A.3
Wadman, S.K.4
Haan, E.5
-
18
-
-
0025348544
-
Phenylalanine flux in adult men: Estimates with different tracers and route of administration
-
Krempf, M., A. Hoerr, and V.R. Young. 1990. Phenylalanine flux in adult men: estimates with different tracers and route of administration. Metabolism. 39:560-562.
-
(1990)
Metabolism
, vol.39
, pp. 560-562
-
-
Krempf, M.1
Hoerr, A.2
Young, V.R.3
-
19
-
-
0003673876
-
-
National Academy Press, Washington, DC
-
National Research Council (U.S.) Subcommittee on the Tenth Edition of the RDAs. 1989. Recommended dietary allowances. National Academy Press, Washington, DC. 184 pp.
-
(1989)
Recommended Dietary Allowances
-
-
-
20
-
-
0025855241
-
Molecular basis of phenotypic heterogeneity in phenylketonuria
-
Okano, Y., R.C. Eisensmith, F. Güttler, U. Lichter-Konecki, D.S. Konecki, F.K. Trefz, M. Dasovich, T. Wang, K. Henriksen, H. Lou, and S.L.C. Woo. 1991. Molecular basis of phenotypic heterogeneity in phenylketonuria. N. Engl. J. Med. 324:1232-1238.
-
(1991)
N. Engl. J. Med.
, vol.324
, pp. 1232-1238
-
-
Okano, Y.1
Eisensmith, R.C.2
Güttler, F.3
Lichter-Konecki, U.4
Konecki, D.S.5
Trefz, F.K.6
Dasovich, M.7
Wang, T.8
Henriksen, K.9
Lou, H.10
Woo, S.L.C.11
-
21
-
-
0029870179
-
Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous Southeastern US population
-
Eisensmith, R.C., D.R. Martinez, A.I. Kuzmin, A.A. Goltsov, A. Brown, R. Singh, L.J. Elsas, and S.L.C. Woo. 1996. Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous Southeastern US population. Pediatrics. 97:512-516.
-
(1996)
Pediatrics
, vol.97
, pp. 512-516
-
-
Eisensmith, R.C.1
Martinez, D.R.2
Kuzmin, A.I.3
Goltsov, A.A.4
Brown, A.5
Singh, R.6
Elsas, L.J.7
Woo, S.L.C.8
-
22
-
-
0027390018
-
Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients
-
Svensson, E., U. von Dobeln, R.C. Eisensmith, L. Hagenfeldt, and S.L.C. Woo. 1993. Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients. Eur. J. Pediatr. 152:132-139.
-
(1993)
Eur. J. Pediatr.
, vol.152
, pp. 132-139
-
-
Svensson, E.1
Von Dobeln, U.2
Eisensmith, R.C.3
Hagenfeldt, L.4
Woo, S.L.C.5
-
25
-
-
0027430130
-
Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in phenylketonuria: Effect of sample timing
-
van Spronsen, F.J., M. van Rijn, T. van Dijk, G.P.A. Smit, D.-J. Reijngoud, R. Berger, and H.S.A. Heymans. 1993. Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in phenylketonuria: effect of sample timing. Pediatrics. 92:570-573.
-
(1993)
Pediatrics
, vol.92
, pp. 570-573
-
-
Van Spronsen, F.J.1
Van Rijn, M.2
Van Dijk, T.3
Smit, G.P.A.4
Reijngoud, D.-J.5
Berger, R.6
Heymans, H.S.A.7
-
26
-
-
0023931708
-
Fasting plasma amino acid concentrations in PKU children on two different levels of protein intake
-
Kindt, E., H.A. Lunde, L.R. Gjessing, S. Halvorsen, and S.O. Lie. 1988. Fasting plasma amino acid concentrations in PKU children on two different levels of protein intake. Acta Paediatr. Scand. 77:60-66.
-
(1988)
Acta Paediatr. Scand.
, vol.77
, pp. 60-66
-
-
Kindt, E.1
Lunde, H.A.2
Gjessing, L.R.3
Halvorsen, S.4
Lie, S.O.5
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