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2. A new variant form of phenylketonuria. Watts RW; Purkiss P; Chalmers RA Q J Med; 1979 Jul; 48(191):403-17. PubMed ID: 317358 [TBL] [Abstract][Full Text] [Related]
3. [In vivo studies of phenylalanine metabolism]. Hjalmarsson O; Jagenburg R; Rödjer S Lakartidningen; 1974 Mar; 71(12):1171-2. PubMed ID: 4821502 [No Abstract] [Full Text] [Related]
4. In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene. Zekanowsk C; Perez B; Desviat LR; Wiszniewski W; Ugarte M Acta Biochim Pol; 2000; 47(2):365-9. PubMed ID: 11051201 [TBL] [Abstract][Full Text] [Related]
5. [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]
6. Phenylketonuria, a family study. Borderline intelligence in two siblings with mentally retarded children. Colombo JP; Vassella F; Humbel R; Rossi E Helv Paediatr Acta; 1967 Jul; 22(3):243-51. PubMed ID: 5592735 [No Abstract] [Full Text] [Related]
7. [Intravenous phenylalanine loading test in normal subjects and the parents of phenylketonuretics]. Badinand A; François R; Site J; Quincy C; Mamelle N; Masson E; Later R C R Seances Soc Biol Fil; 1968; 162(8):1525-8. PubMed ID: 4238174 [No Abstract] [Full Text] [Related]
8. 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]
9. Influence of mode and duration of phenylalanine administration on biochemical parameters in rats of various ages. Yuwiler A; Geller E Dev Psychobiol; 1970; 2(4):240-6. PubMed ID: 5535846 [No Abstract] [Full Text] [Related]
10. Phenylketonuria and its variants. Woolf LI West J Med; 1979 Oct; 131(4):324-6. PubMed ID: 506223 [No Abstract] [Full Text] [Related]
11. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Blau N; Erlandsen H Mol Genet Metab; 2004 Jun; 82(2):101-11. PubMed ID: 15171997 [TBL] [Abstract][Full Text] [Related]
12. Phenylketonuria in China: identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene. Li J; Eisensmith RC; Wang T; Lo WH; Huang SZ; Zeng YT; Yuan LF; Liu SR; Woo SL Hum Mutat; 1994; 3(3):312-4. PubMed ID: 8019568 [No Abstract] [Full Text] [Related]
13. A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency. Steinfeld R; Kohlschütter A; Ullrich K; Lukacs Z Amino Acids; 2003 Jul; 25(1):63-8. PubMed ID: 12836060 [TBL] [Abstract][Full Text] [Related]
14. Impaired phenylalanine-tyrosine conversion in patients with iron-deficiency anemia studied by a L-(2H5)phenylalanine-loading test. Lehmann WD; Heinrich HC Am J Clin Nutr; 1986 Oct; 44(4):468-74. PubMed ID: 3766433 [TBL] [Abstract][Full Text] [Related]
15. [A new method of detection of heterozygotes in phenylpyruvic oligophrenia]. Mamelle N; Mamelle JC; Site J; Quincy C; Later R; Masson E; Moreau P; François R Rev Eur Etud Clin Biol; 1971 Apr; 16(4):342-51. PubMed ID: 5564546 [No Abstract] [Full Text] [Related]
16. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Güttler F Acta Paediatr Scand Suppl; 1980; 280():1-80. PubMed ID: 7006308 [No Abstract] [Full Text] [Related]
17. Phenylalanine tolerance tests. In families with phenylketonuria and hyperphenylalaninemia. Cunningham GC; Day RW; Berman JL; Hsia DY Am J Dis Child; 1969 Jun; 117(6):626-35. PubMed ID: 5771502 [No Abstract] [Full Text] [Related]
18. The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients. Rivera I; Cabral A; Almeida M; Leandro P; Carmona C; Eusébio F; Tasso T; Vilarinho L; Martins E; Lechner MC; de Almeida IT; Konecki DS; Lichter-Konecki U Mol Genet Metab; 2000 Mar; 69(3):195-203. PubMed ID: 10767174 [TBL] [Abstract][Full Text] [Related]
19. Mental retardation in a family with phenylketonuria and mild hyperphenylalaninemia. Cohen BE; Szeinberg A; Berman W; Aviad Y; Crispin M; Hirshorn N; Goland R Pediatrics; 1969 Nov; 44(5):655-60. PubMed ID: 5374976 [No Abstract] [Full Text] [Related]
20. [Malignant forms of phenylketonuria]. Bliumina MG Zh Nevropatol Psikhiatr Im S S Korsakova; 1984; 84(10):1462-5. PubMed ID: 6506948 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]