-
3
-
-
77955908376
-
-
Bogotá D. C.: Panamericana
-
Barrera L, Saenz H, Cuellar Y, Ospina S, Garzón K, Cabrera M, et al. Manual de Enfermedades Metabólicas. Bogotá D. C.: Panamericana; 2004.
-
(2004)
Manual de Enfermedades Metabólicas
-
-
Barrera, L.1
Saenz, H.2
Cuellar, Y.3
Ospina, S.4
Garzón, K.5
Cabrera, M.6
-
4
-
-
60849100203
-
Newborn screening for inborn errors of metabolism and endocrinopathies: An update
-
Fingerhut R, Olgemöller B. Newborn screening for inborn errors of metabolism and endocrinopathies: an update. Anal Bioanal Chem 2009;393(5):1481-97.
-
(2009)
Anal. Bioanal Chem.
, vol.393
, Issue.5
, pp. 1481-1497
-
-
Fingerhut, R.1
Olgemöller, B.2
-
5
-
-
0029438031
-
High Performance Liquid Chromatography (HPLC) method for confirming thin layer chromatography (TLC) findings in inborn errors of metabolism children in Malaysia
-
Yahya N. High Performance Liquid Chromatography (HPLC) method for confirming thin layer chromatography (TLC) findings in inborn errors of metabolism children in Malaysia. Southeast Asian J Trop Med Public Health 1995;26(Suppl 1):130-3.
-
(1995)
Southeast Asian J. Trop Med. Public Health
, vol.26
, Issue.1 SUPPL.
, pp. 130-133
-
-
Yahya, N.1
-
6
-
-
77955907710
-
Chromatographic analysis of amino and organic acids in physiological fluids to detect inborn errors of metabolism
-
Chapter 17
-
Woontner M, Goodman S. Chromatographic analysis of amino and organic acids in physiological fluids to detect inborn errors of metabolism. Curr Protoc Hum Genet 2006; Chapter 17 (Suppl 51): 17.2.1-17.2.14.
-
(2006)
Curr. Protoc. Hum Genet.
, Issue.51 SUPPL.
, pp. 1721-17214
-
-
Woontner, M.1
Goodman, S.2
-
7
-
-
17744412581
-
Analysis for free amino acids in prebreakfast urine samples
-
Kamoun P, Parvy P. Analysis for free amino acids in prebreakfast urine samples. Clin Chem 1981;27(5):783-95.
-
(1981)
Clin. Chem.
, vol.27
, Issue.5
, pp. 783-795
-
-
Kamoun, P.1
Parvy, P.2
-
8
-
-
0030754186
-
Aminoacid determination in biological fluids by automated ion-exchange chromatography: Performance of Hitachi L-8500A
-
Boucher J, Charret C, Coudray-Lucas C, Giboudeau J, Cynober L. Aminoacid determination in biological fluids by automated ion-exchange chromatography: performance of Hitachi L-8500A. Clin Chem 1997;43(8):1421-8.
-
(1997)
Clin. Chem.
, vol.43
, Issue.8
, pp. 1421-1428
-
-
Boucher, J.1
Charret, C.2
Coudray-Lucas, C.3
Giboudeau, J.4
Cynober, L.5
-
9
-
-
0025202468
-
Diet-Related Reference Values for Plasma Amino Acids in Newborns Measured by Reversed-Phase HPLC
-
Scott P, Sandham S, Balmer S, Wharton B. Diet-Related Reference Values for Plasma Amino Acids in Newborns Measured by Reversed-Phase HPLC. Clin Chem 1990;36(11):1922-7.
-
(1990)
Clin. Chem.
, vol.36
, Issue.11
, pp. 1922-1927
-
-
Scott, P.1
Sandham, S.2
Balmer, S.3
Wharton, B.4
-
10
-
-
0020054144
-
Rapid assay for amino acids in serum or urine by pre-colum derivazation and reversedphase liquid chromatography
-
Turnell D, Cooper D. Rapid assay for amino acids in serum or urine by pre-colum derivazation and reversedphase liquid chromatography. Clin Chem 1982;28(3):527-31.
-
(1982)
Clin. Chem.
, vol.28
, Issue.3
, pp. 527-531
-
-
Turnell, D.1
Cooper, D.2
-
11
-
-
0034808085
-
Quantitative amino acid analysis using a Beckman system gold HPLC 126AA analyzer
-
Qu Y, Slocum R, Fu J, Rasmussen WE, Rector HD, Miller JB, et al. Quantitative amino acid analysis using a Beckman system gold HPLC 126AA analyzer. Clin Chim Acta 2001;312(1-2):153-62.
-
(2001)
Clin. Chim Acta
, vol.312
, Issue.1-2
, pp. 153-162
-
-
Qu, Y.1
Slocum, R.2
Fu, J.3
Rasmussen, W.E.4
Rector, H.D.5
Miller, J.B.6
-
12
-
-
39349102367
-
Liquid chromatographic fluorescence determination of amino acids in plasma and urine after derivatization with phanquinone
-
Gatti R, Gioia MG. Liquid chromatographic fluorescence determination of amino acids in plasma and urine after derivatization with phanquinone. Biomed Chromatogr 2008;22(2):207-13.
-
(2008)
Biomed. Chromatogr
, vol.22
, Issue.2
, pp. 207-213
-
-
Gatti, R.1
Gioia, M.G.2
-
13
-
-
33747073568
-
Validation of a reversedphase HPLC method for quantitative amino acid analysis
-
Bartolomeo MP, Maisano F. Validation of a reversedphase HPLC method for quantitative amino acid analysis. J Biomol Tech 2006;17(2):131-7.
-
(2006)
J. Biomol. Tech
, vol.17
, Issue.2
, pp. 131-137
-
-
Bartolomeo, M.P.1
Maisano, F.2
-
14
-
-
34249667769
-
Simple and rapid quantitative high-performance liquid chromatographic analysis of plasma amino acids
-
Frank MP, Powers RW. Simple and rapid quantitative high-performance liquid chromatographic analysis of plasma amino acids. J Chromatogr B Analyt Technol Biomed Life Sci 2007;852(1-2):646-9.
-
(2007)
J. Chromatogr B Analyt Technol. Biomed. Life Sci.
, vol.852
, Issue.1-2
, pp. 646-649
-
-
Frank, M.P.1
Powers, R.W.2
-
15
-
-
0027398648
-
Analysis of physiological amino acids using dabsyl derivatization and reversed-phase liquid chromatography
-
Drnevich D, Vary T. Analysis of physiological amino acids using dabsyl derivatization and reversed-phase liquid chromatography. J Chromatogr 1993;613(1):137-44.
-
(1993)
J. Chromatogr
, vol.613
, Issue.1
, pp. 137-144
-
-
Drnevich, D.1
Vary, T.2
-
16
-
-
0031454302
-
Age-specific distribution of plasma amino acid concentrations in healthy pediatric population
-
Lepage N, McDonald N, Dallaire L, Lambert M. Age-specific distribution of plasma amino acid concentrations in healthy pediatric population. Clin Chem 1997;43(12):2397-402.
-
(1997)
Clin. Chem.
, vol.43
, Issue.12
, pp. 2397-2402
-
-
Lepage, N.1
McDonald, N.2
Dallaire, L.3
Lambert, M.4
-
17
-
-
0014544126
-
Technical pitfalls leading to errors in the quantitation of plasma amino acids
-
Perry T, Hansen S. Technical pitfalls leading to errors in the quantitation of plasma amino acids. Clin Chim Acta 1969;25(1):53-8.
-
(1969)
Clin. Chim Acta
, vol.25
, Issue.1
, pp. 53-58
-
-
Perry, T.1
Hansen, S.2
-
18
-
-
0036000786
-
Plasma free amino acids in Taiwan Chinese
-
Chuang C, Lin S, Lee S, Wang T. Plasma free amino acids in Taiwan Chinese. Clin Chem Lab Med 2002;40(4):378-82.
-
(2002)
Clin. Chem. Lab. Med.
, vol.40
, Issue.4
, pp. 378-382
-
-
Chuang, C.1
Lin, S.2
Lee, S.3
Wang, T.4
-
19
-
-
0032902734
-
Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism
-
Burlina A, Bonafé L, Zacchello F. Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism. Semin Perinatol 1999;23(2):162-73.
-
(1999)
Semin Perinatol
, vol.23
, Issue.2
, pp. 162-173
-
-
Burlina, A.1
Bonafé, L.2
Zacchello, F.3
-
20
-
-
0347853387
-
Errores Innatos del Metabolismo de los Aminoácidos
-
Colombo M, Cornejo V, Raimann E eds, Santiago de Chile: Mediterráneo
-
Cornejo E, Raimann E. Errores Innatos del Metabolismo de los Aminoácidos. En: Colombo M, Cornejo V, Raimann E eds. Errores Innatos del Metabolismo del Niño. Santiago de Chile: Mediterráneo; 1999. pp 59-106.
-
(1999)
Errores Innatos del Metabolismo del Niño
, pp. 59-106
-
-
Cornejo, E.1
Raimann, E.2
-
21
-
-
0242677538
-
Perfil de aminoácidos plasmáticos en adolescentes saludables embarazadas de Maracaibo, Venezuela
-
Ortega P, Castejón H, Argotte M, Gómez G, Bohorquez L, Urrieta J. Perfil de aminoácidos plasmáticos en adolescentes saludables embarazadas de Maracaibo, Venezuela. ALAN 2003;53(2):157-64.
-
(2003)
ALAN
, vol.53
, Issue.2
, pp. 157-164
-
-
Ortega, P.1
Castejón, H.2
Argotte, M.3
Gómez, G.4
Bohorquez, L.5
Urrieta, J.6
-
22
-
-
77955871984
-
Metabolismo proteico en la desnutrición avanzada: Concentración de aminoácidos libres en el plasma sanguíneo
-
Cravioto J, Gómez F, Ramos R, Frenk S, Montaño E, Garcia N. Metabolismo proteico en la desnutrición avanzada: Concentración de aminoácidos libres en el plasma sanguíneo. Bol Of San Panam 1969383-91.
-
Bol of San Panam 1969383-91
-
-
Cravioto, J.1
Gómez, F.2
Ramos, R.3
Frenk, S.4
Montaño, E.5
Garcia, N.6
-
23
-
-
0031666060
-
Plasma amino acids in anorexia nervosa
-
Moyano D, Vilaseca M, Artuch R, Lambruschini N. Plasma amino acids in anorexia nervosa. Eur J Clin Nut 1998;52(9):684-9. (Pubitemid 28433130)
-
(1998)
European Journal of Clinical Nutrition
, vol.52
, Issue.9
, pp. 684-689
-
-
Moyano, D.1
Vilaseca, M.A.2
Artuch, R.3
Lambruschini, N.4
-
24
-
-
2642573071
-
Protein/energy ratios of current diets in developed and developing countries compared with a safe protein/energy ratio: Implications for recommended protein and amino acid intakes
-
Millward J, Jackson A. Protein/energy ratios of current diets in developed and developing countries compared with a safe protein/energy ratio: implications for recommended protein and amino acid intakes. Public Health Nutr 2003;7(3):387-405.
-
(2003)
Public Health Nutr
, vol.7
, Issue.3
, pp. 387-405
-
-
Millward, J.1
Jackson, A.2
-
27
-
-
51149097429
-
Fundamentos De Las Acidemias Orgánicas y Desórdenes Del Ciclo De La Urea: Diagnóstico y Tratamiento - Parte II
-
Barrera L, Echeverri O, Almeciga-Diaz C, Malaver L. Fundamentos De Las Acidemias Orgánicas y Desórdenes Del Ciclo De La Urea: Diagnóstico y Tratamiento - Parte II. Temas Pediátr 2006;24(1):5-23.
-
(2006)
Temas Pediátr
, vol.24
, Issue.1
, pp. 5-23
-
-
Barrera, L.1
Echeverri, O.2
Almeciga-Diaz, C.3
Malaver, L.4
-
28
-
-
33947709950
-
E. R. Phenylketonuria: Dietary and therapeutic challenges
-
Giovannini M, Verduci E, Salvatici E, Fiori L, E. R. Phenylketonuria: dietary and therapeutic challenges. J Inherit Metab Dis 2007;30(2):145-52.
-
(2007)
J. Inherit Metab. Dis.
, vol.30
, Issue.2
, pp. 145-152
-
-
Giovannini, M.1
Verduci, E.2
Salvatici, E.3
Fiori, L.4
-
29
-
-
0036264313
-
Diagnosis and treatment of Maple Syrup Disease: A Study of 36 Patients
-
Holmes D, Strauss K, Robinson D, Pufenberger E, Kelley R. Diagnosis and treatment of Maple Syrup Disease: A Study of 36 Patients. Pediatrics 2002;109(6):x999-1008.
-
(2002)
Pediatrics
, vol.109
, Issue.6
-
-
Holmes, D.1
Strauss, K.2
Robinson, D.3
Pufenberger, E.4
Kelley, R.5
-
30
-
-
77955865643
-
Protocolo de diagnóstico de la enfermedad de orina con olor a jarabe de arce
-
Sanchez A, Serra J, Garcia A, Cabello M, Martinez P. Protocolo de diagnóstico de la enfermedad de orina con olor a jarabe de arce. Ann Esp Pediatr 1997;47(1):9-13.
-
(1997)
Ann. Esp Pediatr.
, vol.47
, Issue.1
, pp. 9-13
-
-
Sanchez, A.1
Serra, J.2
Garcia, A.3
Cabello, M.4
Martinez, P.5
-
31
-
-
0006924323
-
Differential diagnosis of inhereted amino acid metabolism or transport disorders
-
Blom W, Huijmans G. Differential diagnosis of inhereted amino acid metabolism or transport disorders. Amino Acids 1992;2(1-2):25-67.
-
(1992)
Amino Acids
, vol.2
, Issue.1-2
, pp. 25-67
-
-
Blom, W.1
Huijmans, G.2
-
33
-
-
0034788469
-
Nonketotic hyperglycinemia (glycine encephalopathy): Laboratory diagnosis
-
Applegarth D, Toone J. Nonketotic hyperglycinemia (glycine encephalopathy): Laboratory diagnosis. Mol Gen Metab 2001;74(1-2):139-46.
-
(2001)
Mol. Gen. Metab.
, vol.74
, Issue.1-2
, pp. 139-146
-
-
Applegarth, D.1
Toone, J.2
-
34
-
-
2942592526
-
Workshop Report Glycine encephalopathy (nonketotic hyperglycinaemia): Review and update
-
Applegarth D, Toone J. Workshop Report Glycine encephalopathy (nonketotic hyperglycinaemia): Review and update. J Inherit Metab Dis 2004;27(3):417-22.
-
(2004)
J. Inherit Metab. Dis.
, vol.27
, Issue.3
, pp. 417-422
-
-
Applegarth, D.1
Toone, J.2
-
35
-
-
0027530708
-
High-performance liquid chromatographic determination of amino acids in protein hydrolysates and in plasma using automated pre-column derivatization with o-phthaldialdehyde/2-mercaptoethanol
-
Georgi G, Pietsch CSG. High-performance liquid chromatographic determination of amino acids in protein hydrolysates and in plasma using automated pre-column derivatization with o-phthaldialdehyde/2-mercaptoethanol. J Chromatogr 1993;613(1):35-42.
-
(1993)
J. Chromatogr
, vol.613
, Issue.1
, pp. 35-42
-
-
Georgi, G.1
Pietsch, C.S.G.2
-
36
-
-
0021451911
-
Liquid-Chromatographic Measurement of amino acids in biological samples formation of phenylthiohydantoin derivatives
-
Biggs H, Gentilcore L. Liquid-Chromatographic Measurement of amino acids in biological samples formation of phenylthiohydantoin derivatives. Clin Chem 1984;30(6):851-5.
-
(1984)
Clin. Chem.
, vol.30
, Issue.6
, pp. 851-855
-
-
Biggs, H.1
Gentilcore, L.2
-
37
-
-
1842842822
-
Validation of Amino Acid Analysis Methods
-
Smith BJ ed, Clifton: Humana Press
-
Reason A. Validation of Amino Acid Analysis Methods. En: Smith BJ (ed). Protein Sequencing Protocols. Clifton: Humana Press; 2003. pp 181-94.
-
(2003)
Protein Sequencing Protocols
, pp. 181-194
-
-
Reason, A.1
-
39
-
-
0014327516
-
Endogenus renal transport of free amino acids in infancy and childhood
-
Brodehl J, Gellissen K. Endogenus renal transport of free amino acids in infancy and childhood. Pediatrics 1968;42(3):395-404.
-
(1968)
Pediatrics
, vol.42
, Issue.3
, pp. 395-404
-
-
Brodehl, J.1
Gellissen, K.2
-
40
-
-
0008384443
-
Free amino acids of blood and urine in the human
-
Amsterdam: Jt. Holden
-
Soupart P. Free amino acids of blood and urine in the human. Amino Acids Pools. Amsterdam: Jt. Holden; 1962.
-
(1962)
Amino Acids Pools
-
-
Soupart, P.1
|