A GC/MS-based metabolomic approach for reliable diagnosis of phenylketonuria
Author:
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry,Analytical Chemistry
Link
http://link.springer.com/content/pdf/10.1007/s00216-015-9041-3.pdf
Reference39 articles.
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2. Khemir S, El Asmi M, Sanhaji H, Feki M, Jemaa R, Tebib N, Dhondt JL, Ben Dridi MF, Mebazaa A, Kaabachi N (2011) Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment. Clin Neurol Neurosurg 113:727–730
3. Guthrie R, Susi A (1963) A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32:338–343
4. González EC, Frometa A, Rio L, Castells E, Robaina MS, García SM, Licourt T, Arteaga AL, Martínez L (2009) Cuban neonatal screening of phenylketonuria using an ultramicro-fluorometric test. Clin Chim Acta 402:129–132
5. Schulze A, Mayatepek E, Hoffmann GF (2002) Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria. Clin Chim Acta 317:27–37
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