These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
91 related articles for article (PubMed ID: 19302777)
1. Detection of Heterozygous Carriers of PKU in Egypt: Successful Application of a Simple Biochemical Method. Abdalla EM J Egypt Public Health Assoc; 2008; 83(3-4):239-54. PubMed ID: 19302777 [TBL] [Abstract][Full Text] [Related]
2. Evaluation of an aspartame loading test for the detection of heterozygotes for classical phenylketonuria. Silva LC; Pires RF; Coelho JC; Jardim LB; Giugliani R Clin Genet; 1997 Apr; 51(4):231-5. PubMed ID: 9184243 [TBL] [Abstract][Full Text] [Related]
3. A simple method for detection of heterozygous carriers of the gene for classic phenylketonuria. Hilton MA; Sharpe JN; Hicks LG; Andrews BF J Pediatr; 1986 Oct; 109(4):601-4. PubMed ID: 3761073 [TBL] [Abstract][Full Text] [Related]
4. Heterozygous carriers of classical phenylketonuria in a sample of the Turkish population: detection by a spectrofluorimetric method. Güneral F; Ozalp I; Tatlidil H J Inherit Metab Dis; 1991; 14(5):741-8. PubMed ID: 1843186 [TBL] [Abstract][Full Text] [Related]
5. [A study of phenylketonuria heterozygotes screening in married population of Tianjin area]. Song L; Xu F; Meng Y; Wang X; Liu C; Gao W; Shan Z; Liu C; Ding Z Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Feb; 18(1):56-8. PubMed ID: 11172645 [TBL] [Abstract][Full Text] [Related]
6. Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes. Mallolas J; Milà M; Lambruschini N; Cambra FJ; Campistol J; Vilaseca MA Mol Genet Metab; 1999 Jun; 67(2):156-61. PubMed ID: 10356315 [TBL] [Abstract][Full Text] [Related]
7. Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency. Verduci E; Riva E; Agostoni C; Leviti S; Fiori L; Lammardo AM; Biondi ML; Giovannini M Acta Paediatr; 2002; 91(7):805-10. PubMed ID: 12200907 [TBL] [Abstract][Full Text] [Related]
8. Effect of high-protein meal plus aspartame ingestion on plasma phenylalanine concentrations in obligate heterozygotes for phenylketonuria. Curtius HC; Endres W; Blau N Metabolism; 1994 Apr; 43(4):413-6. PubMed ID: 8159095 [TBL] [Abstract][Full Text] [Related]
9. Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes. Svensson E; Iselius L; Hagenfeldt L J Inherit Metab Dis; 1994; 17(2):215-22. PubMed ID: 7967476 [TBL] [Abstract][Full Text] [Related]
10. Validation of amino-acids measurement in dried blood spot by FIA-MS/MS for PKU management. Bruno C; Dufour-Rainfray D; Patin F; Vourc'h P; Guilloteau D; Maillot F; Labarthe F; Tardieu M; Andres CR; Emond P; Blasco H Clin Biochem; 2016 Sep; 49(13-14):1047-50. PubMed ID: 27450222 [TBL] [Abstract][Full Text] [Related]
11. Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria. Stroup BM; Held PK; Williams P; Clayton MK; Murali SG; Rice GM; Ney DM Mol Genet Metab Rep; 2016 Mar; 6():21-6. PubMed ID: 27014575 [TBL] [Abstract][Full Text] [Related]
12. Carrier screening for phenylketonuria: comparison of two discriminant analysis procedures. Freehauf CL; Lezotte D; Goodman SI; McCabe ER Am J Hum Genet; 1984 Nov; 36(6):1180-9. PubMed ID: 6517048 [TBL] [Abstract][Full Text] [Related]
13. Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency. Ponzone A; Porta F; Mussa A; Alluto A; Ferraris S; Spada M Metabolism; 2010 May; 59(5):645-52. PubMed ID: 19913839 [TBL] [Abstract][Full Text] [Related]
14. Detection of heterozygous carriers for phenylketonuria by a L-[2H5]phenylalanine stable isotope loading test. Lehmann WD; Theobald N; Heinrich HC; Clemens P; Grüttner R Clin Chim Acta; 1984 Mar; 138(1):59-71. PubMed ID: 6713688 [TBL] [Abstract][Full Text] [Related]
15. Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria. Leuzzi V; Mannarelli D; Manti F; Pauletti C; Locuratolo N; Carducci C; Carducci C; Vanacore N; Fattapposta F Front Pediatr; 2014; 2():57. PubMed ID: 25003100 [TBL] [Abstract][Full Text] [Related]
16. Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU. Daly A; Evans S; Chahal S; Santra S; Pinto A; Jackson R; Gingell C; Rocha J; Van Spronsen FJ; MacDonald A Orphanet J Rare Dis; 2019 Feb; 14(1):44. PubMed ID: 30770754 [TBL] [Abstract][Full Text] [Related]
17. Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals. Thalhammer O; Lubec G; Königshofer H; Scheibenreiter S; Coradello H Hum Genet; 1982; 60(4):320-1. PubMed ID: 7106768 [TBL] [Abstract][Full Text] [Related]
18. Phenylketonuria. The in vivo hydroxylation rate of phenylalanine into tyrosine is decreased. van Spronsen FJ; Reijngoud DJ; Smit GP; Nagel GT; Stellaard F; Berger R; Heymans HS J Clin Invest; 1998 Jun; 101(12):2875-80. PubMed ID: 9637722 [TBL] [Abstract][Full Text] [Related]
19. A simplified test to detect PKU heterozygotes by discriminant analysis in mentally retarded children and their mothers. Sartorio R; Greco L; Carrozzo R; Budillon C; Andria G Clin Genet; 1988 Apr; 33(4):241-5. PubMed ID: 3359681 [TBL] [Abstract][Full Text] [Related]
20. Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. Diamond A; Prevor MB; Callender G; Druin DP Monogr Soc Res Child Dev; 1997; 62(4):i-v, 1-208. PubMed ID: 9421921 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]