-
1
-
-
0025914001
-
Review of neonatal screening programme for phenylketonuria
-
Smith I, Cook B, Beasley M. Review of neonatal screening programme for phenylketonuria. Br Med J 1991;303: 333-5.
-
(1991)
Br Med J
, vol.303
, pp. 333-335
-
-
Smith, I.1
Cook, B.2
Beasley, M.3
-
2
-
-
0025855241
-
Molecular basic of phenotypic heterogeneity in phenylketonuria
-
Okano Y, Eisensmith RC, Guttler F, Lichter-Konecki U, Konecki DS, Trefz FK, et al. Molecular basic of phenotypic heterogeneity in phenylketonuria. N Engl J Med 1991;324:1232-8.
-
(1991)
N Engl J Med
, vol.324
, pp. 1232-1238
-
-
Okano, Y.1
Eisensmith, R.C.2
Guttler, F.3
Lichter-Konecki, U.4
Konecki, D.S.5
Trefz, F.K.6
-
3
-
-
33749073859
-
-
Kaye CI, Committee on Genetics, Accuro F, La Franchi S, Lane PA, Northrup H, Pang S, et al. Introduction to the newborn screening fact sheet. Pediatrics 2006;118: 1304-12.
-
Kaye CI, Committee on Genetics, Accuro F, La Franchi S, Lane PA, Northrup H, Pang S, et al. Introduction to the newborn screening fact sheet. Pediatrics 2006;118: 1304-12.
-
-
-
-
4
-
-
0020454065
-
A new type of hypermethioninemia in neonates
-
Tsuchiyama A, Oyanagi K, Nakata F, Uetsuji N, Tsugawa S, Nakao T, et al. A new type of hypermethioninemia in neonates. Tohoku J Exp Med 1982;138:281-8.
-
(1982)
Tohoku J Exp Med
, vol.138
, pp. 281-288
-
-
Tsuchiyama, A.1
Oyanagi, K.2
Nakata, F.3
Uetsuji, N.4
Tsugawa, S.5
Nakao, T.6
-
5
-
-
12444344852
-
Infatile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: A diagnostic trap
-
Harvey Mudd S, Braverman N, Pomper M, Tezcan K, Kronick J, Janyakar P, et al. Infatile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. Mol Genet Metab 2003;79:6-16.
-
(2003)
Mol Genet Metab
, vol.79
, pp. 6-16
-
-
Harvey Mudd, S.1
Braverman, N.2
Pomper, M.3
Tezcan, K.4
Kronick, J.5
Janyakar, P.6
-
6
-
-
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;32:338-43.
-
(1963)
Pediatrics
, vol.32
, pp. 338-343
-
-
Guthrie, R.1
Susi, A.2
-
7
-
-
0024423690
-
Fluorometric method for phenylalanine microplate assay adapted for phenylketonuria screening
-
Gerasimova NS, Steklova IV, Tuuminen T. Fluorometric method for phenylalanine microplate assay adapted for phenylketonuria screening. Clin Chem 1989;35:2112-5.
-
(1989)
Clin Chem
, vol.35
, pp. 2112-2115
-
-
Gerasimova, N.S.1
Steklova, I.V.2
Tuuminen, T.3
-
8
-
-
0028197091
-
Neonatal screening for phenylketonuria: Evaluation of an automated enzymatic method
-
Keffler S, Denmeade R, Green A. Neonatal screening for phenylketonuria: evaluation of an automated enzymatic method. Ann Clin Biochem 1994;31:134-9.
-
(1994)
Ann Clin Biochem
, vol.31
, pp. 134-139
-
-
Keffler, S.1
Denmeade, R.2
Green, A.3
-
9
-
-
0028933522
-
Phenylketonuria screening using the quantase phenylalanine kit in combination with a microfilter system and the dye tartazine
-
Elvers LH, Diependaal GAM, Blonk HJ, Loeber JG. Phenylketonuria screening using the quantase phenylalanine kit in combination with a microfilter system and the dye tartazine. Screening 1995;3:209-23.
-
(1995)
Screening
, vol.3
, pp. 209-223
-
-
Elvers, L.H.1
Diependaal, G.A.M.2
Blonk, H.J.3
Loeber, J.G.4
-
10
-
-
0023618929
-
Phenylalanine and tyrosine in serum and eluates from dried blood spots as determined by reversed-phase liquid chromatography
-
Rudy JL, Rutledge JC, Lewis SL. Phenylalanine and tyrosine in serum and eluates from dried blood spots as determined by reversed-phase liquid chromatography. Clin Chem 1987;33:1152-4.
-
(1987)
Clin Chem
, vol.33
, pp. 1152-1154
-
-
Rudy, J.L.1
Rutledge, J.C.2
Lewis, S.L.3
-
11
-
-
35348903729
-
Development and validation of a liquid chromatographic method for the determination of branched-chain amino acids in new dosage forms
-
Gioia MG, Andreatta P, Boschetti S, Gatti R. Development and validation of a liquid chromatographic method for the determination of branched-chain amino acids in new dosage forms. J Pharm Biomed Anal 2007;45: 456-64.
-
(2007)
J Pharm Biomed Anal
, vol.45
, pp. 456-464
-
-
Gioia, M.G.1
Andreatta, P.2
Boschetti, S.3
Gatti, R.4
-
12
-
-
0021102271
-
Reversed-phase ion-pair chromatography of amino acids. Application to the determination of amino acids in plasma samples and dried blood on filter papers
-
Hayashi T, Tsuchiya H, Naruse H. Reversed-phase ion-pair chromatography of amino acids. Application to the determination of amino acids in plasma samples and dried blood on filter papers. J Chromatogr 1983;274: 318-24.
-
(1983)
J Chromatogr
, vol.274
, pp. 318-324
-
-
Hayashi, T.1
Tsuchiya, H.2
Naruse, H.3
-
13
-
-
0023162049
-
High-performance liquid chromatographic methods with fluorescence detection for the determination of branched-chain amino acids and their alpha-keto analogues in plasma samples of healthy subjects and uraemic patients
-
Qureshi GA. High-performance liquid chromatographic methods with fluorescence detection for the determination of branched-chain amino acids and their alpha-keto analogues in plasma samples of healthy subjects and uraemic patients. J Chromatogr 1987;400:91-9.
-
(1987)
J Chromatogr
, vol.400
, pp. 91-99
-
-
Qureshi, G.A.1
-
14
-
-
0024291423
-
Simple method for rapid quantification of branched-chain 2-oxo acids in physiological fluids as quinoxalinol derivatives by high-performance liquid chromatography
-
Radeck W, Beck K, Staib W. Simple method for rapid quantification of branched-chain 2-oxo acids in physiological fluids as quinoxalinol derivatives by high-performance liquid chromatography. J Chromatogr 1988;432:297-301.
-
(1988)
J Chromatogr
, vol.432
, pp. 297-301
-
-
Radeck, W.1
Beck, K.2
Staib, W.3
-
15
-
-
0034123725
-
Branched-chain keto-acids and pyruvate in blood: Measurement by HPLC with fluorimetric detection and changes in older subjects
-
Pailla K, Blonde-Cynober F, Aussel C, De Bandt JP, Cynober L. Branched-chain keto-acids and pyruvate in blood: measurement by HPLC with fluorimetric detection and changes in older subjects. Clin Chem 2000;46:848-53.
-
(2000)
Clin Chem
, vol.46
, pp. 848-853
-
-
Pailla, K.1
Blonde-Cynober, F.2
Aussel, C.3
De Bandt, J.P.4
Cynober, L.5
-
16
-
-
0021485786
-
Fluorescent analysis of alpha-keto acids in serum and urine by high-performance liquid chromatography
-
Koike K, Koike M. Fluorescent analysis of alpha-keto acids in serum and urine by high-performance liquid chromatography. Anal Biochem 1984;141:481-7.
-
(1984)
Anal Biochem
, vol.141
, pp. 481-487
-
-
Koike, K.1
Koike, M.2
-
17
-
-
0037175431
-
Gas chromatography-mass spectrometry method for determination of phenylalanine and tyrosine in neonatal blood spots
-
Deng C, Deng Y, Wang B, Yang X. Gas chromatography-mass spectrometry method for determination of phenylalanine and tyrosine in neonatal blood spots. J Chromatogr B Analyt Technol Biomed Life Sci 2002;780: 407-13.
-
(2002)
J Chromatogr B Analyt Technol Biomed Life Sci
, vol.780
, pp. 407-413
-
-
Deng, C.1
Deng, Y.2
Wang, B.3
Yang, X.4
-
18
-
-
0038306717
-
Diagnosis of maple syrup urine disease by determination of L-valine, L-isoleucine, L-leucine and L-phenylalanine in neonatal blood spots by gas chromatography-mass spectrometry
-
Deng C, Deng Y. Diagnosis of maple syrup urine disease by determination of L-valine, L-isoleucine, L-leucine and L-phenylalanine in neonatal blood spots by gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 2003;792:261-8.
-
(2003)
J Chromatogr B Analyt Technol Biomed Life Sci
, vol.792
, pp. 261-268
-
-
Deng, C.1
Deng, Y.2
-
19
-
-
0018404125
-
Gas-liquid chromatography of alpha-keto acids: Quantification of the branched-chain-alpha-keto acids from physiological sources
-
Cree TC, Hutson SM, Harper AE. Gas-liquid chromatography of alpha-keto acids: quantification of the branched-chain-alpha-keto acids from physiological sources. Anal Biochem 1979;92:159-63.
-
(1979)
Anal Biochem
, vol.92
, pp. 159-163
-
-
Cree, T.C.1
Hutson, S.M.2
Harper, A.E.3
-
20
-
-
0031649509
-
Newborn screening by tandem mass spectrometry: A new era
-
Levy HL. Newborn screening by tandem mass spectrometry: a new era. Clin Chem 1998;44:2401-2.
-
(1998)
Clin Chem
, vol.44
, pp. 2401-2402
-
-
Levy, H.L.1
-
21
-
-
0030111467
-
Newborn screening by tandem mass spectrometry (MS-MS)
-
Sweetman L. Newborn screening by tandem mass spectrometry (MS-MS). Clin Chem 1996;42:345-6.
-
(1996)
Clin Chem
, vol.42
, pp. 345-346
-
-
Sweetman, L.1
-
22
-
-
0025161928
-
Appraisal of four pre-column derivatization methods for the high-performance liquid chromatographic determination of free amino acids in biological materials
-
Furst P, Pollack L, Graser TA, Godel H, Stehle P. Appraisal of four pre-column derivatization methods for the high-performance liquid chromatographic determination of free amino acids in biological materials. J Chromatogr 1990;499:557-69.
-
(1990)
J Chromatogr
, vol.499
, pp. 557-569
-
-
Furst, P.1
Pollack, L.2
Graser, T.A.3
Godel, H.4
Stehle, P.5
-
23
-
-
0022401467
-
Selective determination of secondary amino acids using pre-column derivatization with 9-fluorenyl chloroformate and reversed-phase high-performance liquid chromatography
-
Einarsson S. Selective determination of secondary amino acids using pre-column derivatization with 9-fluorenyl chloroformate and reversed-phase high-performance liquid chromatography. J Chromatogr 1985;348:213-20.
-
(1985)
J Chromatogr
, vol.348
, pp. 213-220
-
-
Einarsson, S.1
-
24
-
-
0347063911
-
Simultaneous analysis of amino acid and biogenic polyamines by high-performance liquid chromatography after pre-column derivatization with N-(9-fluorenylmethoxycarbanyloxy)succinimide
-
Lozanov V, Petrov S, Mitev V. Simultaneous analysis of amino acid and biogenic polyamines by high-performance liquid chromatography after pre-column derivatization with N-(9-fluorenylmethoxycarbanyloxy)succinimide. J Chromatogr 2004;1025:201-8.
-
(2004)
J Chromatogr
, vol.1025
, pp. 201-208
-
-
Lozanov, V.1
Petrov, S.2
Mitev, V.3
-
25
-
-
0032966319
-
Fluorescence properties of carbazole-9-yl-acetyl chloride and its application for the simultaneous determination of amino acids and biogenic amines via liquid chromatography with fluorescence detection
-
You J, Sun H, Lao W, Ou Q. Fluorescence properties of carbazole-9-yl-acetyl chloride and its application for the simultaneous determination of amino acids and biogenic amines via liquid chromatography with fluorescence detection. Anal Chim Acta 1999;382:51-65.
-
(1999)
Anal Chim Acta
, vol.382
, pp. 51-65
-
-
You, J.1
Sun, H.2
Lao, W.3
Ou, Q.4
-
26
-
-
0021710691
-
Rapid analysis of amino acids using pre-column derivatization
-
Bidlingmeyer BA, Cohen SA, Tarvin TL. Rapid analysis of amino acids using pre-column derivatization. J Chromatogr 1984;336:93-104.
-
(1984)
J Chromatogr
, vol.336
, pp. 93-104
-
-
Bidlingmeyer, B.A.1
Cohen, S.A.2
Tarvin, T.L.3
-
27
-
-
2142825608
-
Determination of aromatic and branched-chain amino acids by HPLC with electrogenerated Ru(bpy)3(3+) chemiluminiscence detection
-
Uchikura K. Determination of aromatic and branched-chain amino acids by HPLC with electrogenerated Ru(bpy)3(3+) chemiluminiscence detection. Chem Pharm Bull (Tokyo) 2003;51:1092-4.
-
(2003)
Chem Pharm Bull (Tokyo)
, vol.51
, pp. 1092-1094
-
-
Uchikura, K.1
-
28
-
-
0024503433
-
A post-column immobilized leucine dehydrogenase reactor for determination of branched chain amino acids by high-performance liquid chromatography with fluorescence detection
-
Kiba N, Hori S, Furusawa M. A post-column immobilized leucine dehydrogenase reactor for determination of branched chain amino acids by high-performance liquid chromatography with fluorescence detection. J Chromatogr 1989;463:177-82.
-
(1989)
J Chromatogr
, vol.463
, pp. 177-182
-
-
Kiba, N.1
Hori, S.2
Furusawa, M.3
-
29
-
-
0026595701
-
Essential branched-chain amino acids and alpha-ketoanalogues in haemodialysis patients
-
Riedel E, Hampl H, Nundel M, Farshidfar G. Essential branched-chain amino acids and alpha-ketoanalogues in haemodialysis patients. Nephrol Dial Transplat 1992; 7:117-20.
-
(1992)
Nephrol Dial Transplat
, vol.7
, pp. 117-120
-
-
Riedel, E.1
Hampl, H.2
Nundel, M.3
Farshidfar, G.4
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