Detection of heterozygous carriers for phenylketonuria by a l-[2H5]phenylalanine stable isotope loading test
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference27 articles.
1. Detection by phenylalanine tolerance tests of heterozygous carriers of PKU;Hsia;Nature,1956
2. Phenylketonuria: the phenylalanine/tyrosine ratio in the detection of the heterozygous carrier;Hsia;J Ment Defie Res,1958
3. Detection of heterozygotes for phenylketonuria;Jervis;Clin Chim Acta,1960
4. Detection of heterozygotes for phenylketonuria by column chromatography and discriminatory analysis;Rampini;Pediatr Res,1969
5. Phenylalanine tolerance tests in families with phenylketonuria and hyperphenylalaninemia;Cunningham;Am J Dis Child,1969
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1. A timeline of stable isotopes and mass spectrometry in the life sciences;Mass Spectrometry Reviews;2016-02-25
2. Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals;Journal of Inborn Errors of Metabolism and Screening;2015-02-18
3. Disorders of the Metabolism of Amino Acids and Related Compounds;Genetic Disorders and the Fetus;2010-09-24
4. Evaluation of an aspartame loading test for the detection of heterozygotes for classical phenylketonuria;Clinical Genetics;2008-06-28
5. Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations;Clinical Genetics;2000-07
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