Amino acids

Laboratory Guide to the Methods in Biochemical Genetics

Volumn , Issue , 2008, Pages 53-89

  Duran, Marinus ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 79952191770     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-76698-8_5     Document Type: Chapter

References (12)

1. Blau N, Duran M, Blaskovics ME, Gibson KM (2003) Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. Springer Verlag, Berlin, pp 1-716
2. Bremer HJ, Duran M, Kamerling JP, Przyrembel H, Wadman SK (1981) Disturbances of Amino Acid Metabolism: Clinical Chemistry and Diagnosis. Urban Schwarzenberg, Mchen, pp 1-525
3. Clarke JTR (2006) A Clinical Guide to Inherited Metabolic Diseases. Cambridge University Press, Cambridge, UK, pp 1-338
4. Fernandes J, Saudubray JM, Van den Berghe G, Walter J (2006) Inborn Metabolic Diseases. Springer Verlag, Berlin, pp 1-438
5. Leah JM, Palmer T, Griffin M, Wingad CJ, Briddon A, Oberholzer VG (1986) Urine amino acid analysis by HPLC in the investigation of inborn errors of metabolism. J Inherit Metab Dis 9:250-253
6. Mayne PD, Roche G, Deverell D (2001) Amino acids: analytical aspects, Workshop report. J Inherit Metab Dis 24:305-308
7. Parvy P, Bardet J, Rabier D, Kamoun P (1995) A scheme for the interpretation of primary and secondary disturbances of plasma and urinary amino acid profiles. A possible way to an expert system. Clin Chim Acta 235:1-10
8. Piraud M, Vianey-Saban C, Bourdin C, Acquavica-Bourdain C, Boyer S, Elfakir C, Bouchu D (2005) A new reversed-phase liquid chromatographic/tandem mass spectrometric method for analysis of underivatized amino acids: evaluation for the diagnosis and the management of inherited disorders of amino acid metabolism. Rapid Commun Mass Spectrom 19:3287-3297
9. Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF (2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111:1399-1406
10. Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B (2001) The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill, New York, pp 1-6338
11. Walker V, Mills GA (1995) Quantitative methods for amino acid analysis in biological fluids. Ann Clin Biochem 32:28-57
12. Zschocke J, Hoffmann GF (2004) Vademecum Metabolicum. Schattauer, Milupa, Friedrichsdorf, pp 1-164