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2. [Intracellular concentration of phenylalanine, tyrosine and alpha-amino butyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria (PKU) compared with 26 normals (author's transl)]. Thalhammer O; Pollak A; Lubec G; Königshofer H Klin Padiatr; 1980 Nov; 192(6):608-12. PubMed ID: 7194402 [TBL] [Abstract][Full Text] [Related]
3. [The IQ of heterozygotes for phenylketonuria (PKU). indication of a blood phenylalanine-independent action of the PKU mutant (author's transl)]. Thalhammer O; Havelec L; Knoll E; Wehle E Wien Klin Wochenschr; 1977 Oct; 89(20):684-6. PubMed ID: 930099 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria. Hennermann JB; Loui A; Weber A; Mönch E J Perinat Med; 2004; 32(4):383-5. PubMed ID: 15346830 [TBL] [Abstract][Full Text] [Related]
6. Response of patients with phenylketonuria in the US to tetrahydrobiopterin. Matalon R; Michals-Matalon K; Koch R; Grady J; Tyring S; Stevens RC Mol Genet Metab; 2005 Dec; 86 Suppl 1():S17-21. PubMed ID: 16143554 [TBL] [Abstract][Full Text] [Related]
11. Plasma phenylalanine and tyrosine levels during the day in normal female controls and female obligate phenylketonuria heterozygotes. De Groot CJ; Hommes FA Enzyme; 1982; 28(4):404-7. PubMed ID: 7151779 [TBL] [Abstract][Full Text] [Related]
12. Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio. Westwood A; Raine DN J Med Genet; 1975 Dec; 12(4):327-33. PubMed ID: 1219115 [TBL] [Abstract][Full Text] [Related]
14. Different phenotypes for phenylalanine hydroxylase deficiency. Güttler F; Hansen G Ann Clin Biochem; 1977 May; 14(3):124-34. PubMed ID: 869488 [TBL] [Abstract][Full Text] [Related]
15. [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]
16. About changes of the phenylalanine-tyrosine metabolism in psoriasis vulgaris. Knapp A Acta Univ Carol Med (Praha); 1986; 32(3-4):203-6. PubMed ID: 3434474 [No Abstract] [Full Text] [Related]
17. In vivo studies of the phenylalanine-4-hydroxylase system in hyperphenylalaninemics and phenylketonurics. Curtius HC; Zagalak MJ; Baerlocher K; Schaub J; Leimbacher W; Redweik U Helv Paediatr Acta; 1978 Feb; 32(6):461-9. PubMed ID: 632110 [TBL] [Abstract][Full Text] [Related]
18. Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. Fiege B; Bonafé L; Ballhausen D; Baumgartner M; Thöny B; Meili D; Fiori L; Giovannini M; Blau N Mol Genet Metab; 2005 Dec; 86 Suppl 1():S91-5. PubMed ID: 16290003 [TBL] [Abstract][Full Text] [Related]
19. Intracellular concentrations of phenylalanine, tyrosine and alpha-aminobutyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria (PKU) compared with 26 normals. Thalhammer O; Pollak A; Lubec G; Königshofer H Hum Genet; 1980; 54(2):213-6. PubMed ID: 7390492 [No Abstract] [Full Text] [Related]
20. 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] [Next] [New Search]