Comparative diagnostic value of phenyla-lanine challenge and phenylalanine hydroxylase activity in phenylketonuria
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1983.tb01975.x/fullpdf
Reference23 articles.
1. Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyper-phenylalaninemia;Bartholome;Pediat. Res.,1975
2. Diagnosis of phenylalanine hydroxylase deficiency (phenylketonuria);Berry;Amer. J. Dis. Child.,1982
3. Procedures for monitoring the low phenylalanine diet in treatment of phenylketonuria;Berry;J. Pediat.,1965
4. Phenylalaninemia. Differential diagnosis;Blaskovics;Arch. Dis. Childh.,1974
5. A note on the determination of phenylpyruvic acid in urine;Christensen;Scand. J. Clin. Lab. Invest.,1961
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1. Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria;Nutrients;2021-11-10
2. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies;Molecular Genetics and Metabolism;2011-01
3. Phenylketonuria and Hyperphenylalaninemia;Neurocutaneous Diseases;1987
4. Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test;Clinica Chimica Acta;1985-12
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