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7. [Detection of heterozygotes of typical phenylketonuria]. Farriaux JP; Delabre M Arch Fr Pediatr; 1972 Apr; 29(4):365-72. PubMed ID: 5053206 [No Abstract] [Full Text] [Related]
8. 50 years ago in the Journal of Pediatrics: identification of heterozygotes with phenylketonuria on basis of blood tyrosine responses. Ross LF J Pediatr; 2012 Sep; 161(3):487. PubMed ID: 22916975 [No Abstract] [Full Text] [Related]
9. 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]
10. Detection of heterozygotes for phenylketonuria. Total body phenylalanine clearance and concentrations of phenylalanine and tyrosine in the plasms of fasting subjects compared. Jagenburg R; Regårdh CG; Rödjer S Clin Chem; 1977 Sep; 23(9):1654-60. PubMed ID: 890909 [TBL] [Abstract][Full Text] [Related]
11. Intracellular concentrations of phenylalanine, tyrosine and alpha-aminobutyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria compared with 26 normals. Thalhammer O; Pollak A; Lubec G; Königshofer H J Inherit Metab Dis; 1981; 4(2):73-4. PubMed ID: 6790854 [No Abstract] [Full Text] [Related]
12. [Heterozygote identification in phenylketonuria]. Rampini S; Anders PW; Curtius HC; Marthaler T Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg; 1968; 43(3-4):suppl 102-3. PubMed ID: 5761621 [No Abstract] [Full Text] [Related]
13. A third allele at the phenylalanine-hydroxylase locus in mild phenylketonuria (hyperphenylalaninaemia). Woolf LI; Goodwin BL; Cranston WI; Wade DN; Woolf F; Hudson FP; McBean MS Lancet; 1968 Jan; 1(7534):114-7. PubMed ID: 4169602 [No Abstract] [Full Text] [Related]
14. 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]
15. [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]
16. Improved identification of heterozygotes for phenylketonuria using blood neopterin and biopterin. Alós T; Bel Y; Cabello ML; Catalá JL; Dalmau J; Ferré J; García AM; Ruiz-Vázquez P J Inherit Metab Dis; 1993; 16(2):457-64. PubMed ID: 8412006 [TBL] [Abstract][Full Text] [Related]
17. Heterozygous carriers of phenylketonuria detected by phenylalanine tolerance tests. YI-YUNG HSIA D; DRISCOLL K; TROLL W; KNOX WE Acta Genet Stat Med; 1957; 7(1):189-90. PubMed ID: 13469142 [No Abstract] [Full Text] [Related]
18. Detection of heterozygotes for phenylketonuria by column chromatography and discriminatory analysis. Rampini S; Anders PW; Curtius HC; Marthaler T Pediatr Res; 1969 Jul; 3(4):287-97. PubMed ID: 5807058 [No Abstract] [Full Text] [Related]
19. 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]
20. Intracellular phenylalanine and tyrosine concentrations in 19 heterozygotes for phenylketonuria (PKU) and 26 normals. Do the higher values in heterozygotes explain their lowered intellectual level? Thalhammer O; Lubec G; Königshofer H Hum Genet; 1979 Jul; 49(3):333-6. PubMed ID: 478540 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]