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24. Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote. Kleiman S; Vanagaite L; Bernstein J; Schwartz G; Brand N; Elitzur A; Woo SL; Shiloh Y J Med Genet; 1993 Apr; 30(4):284-8. PubMed ID: 8487271 [TBL] [Abstract][Full Text] [Related]
25. Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria. Gámez A; Sarkissian CN; Wang L; Kim W; Straub M; Patch MG; Chen L; Striepeke S; Fitzpatrick P; Lemontt JF; O'Neill C; Scriver CR; Stevens RC Mol Ther; 2005 Jun; 11(6):986-9. PubMed ID: 15922970 [TBL] [Abstract][Full Text] [Related]
26. Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria. Thompson GN; Halliday D J Clin Invest; 1990 Jul; 86(1):317-22. PubMed ID: 2365821 [TBL] [Abstract][Full Text] [Related]
27. Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria. Burton BK; Jones KB; Cederbaum S; Rohr F; Waisbren S; Irwin DE; Kim G; Lilienstein J; Alvarez I; Jurecki E; Levy H Mol Genet Metab; 2018 Nov; 125(3):228-234. PubMed ID: 30266197 [TBL] [Abstract][Full Text] [Related]
28. Of mice and men: Plasma phenylalanine reduction in PKU corrects neurotransmitter pathways in the brain. Berguig GY; Martin NT; Creer AY; Xie L; Zhang L; Murphy R; Pacheco G; Bullens S; Olbertz J; Weng HH Mol Genet Metab; 2019 Dec; 128(4):422-430. PubMed ID: 31648944 [TBL] [Abstract][Full Text] [Related]
29. Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria. Boot E; Hollak CEM; Huijbregts SCJ; Jahja R; van Vliet D; Nederveen AJ; Nieman DH; Bosch AM; Bour LJ; Bakermans AJ; Abeling NGGM; Bassett AS; van Amelsvoort TAMJ; van Spronsen FJ; Booij J Psychol Med; 2017 Dec; 47(16):2854-2865. PubMed ID: 28552082 [TBL] [Abstract][Full Text] [Related]
30. Blood-brain phenylalanine relationships in persons with phenylketonuria. Koch R; Moats R; Guttler F; Guldberg P; Nelson M Pediatrics; 2000 Nov; 106(5):1093-6. PubMed ID: 11061780 [TBL] [Abstract][Full Text] [Related]
31. Characterization of an engineered live bacterial therapeutic for the treatment of phenylketonuria in a human gut-on-a-chip. Nelson MT; Charbonneau MR; Coia HG; Castillo MJ; Holt C; Greenwood ES; Robinson PJ; Merrill EA; Lubkowicz D; Mauzy CA Nat Commun; 2021 May; 12(1):2805. PubMed ID: 33990606 [TBL] [Abstract][Full Text] [Related]
32. Maternal phenylketonuria: a metabolic teratogen. Levy HL; Ghavami M Teratology; 1996 Mar; 53(3):176-84. PubMed ID: 8761885 [TBL] [Abstract][Full Text] [Related]
33. The PKU locus in man is on chromosome 12. Lidksy AS; Robson KJ; Thirumalachary C; Barker PE; Ruddle FH; Woo SL Am J Hum Genet; 1984 May; 36(3):527-33. PubMed ID: 6547271 [TBL] [Abstract][Full Text] [Related]
34. Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Güttler F; Azen C; Guldberg P; Romstad A; Hanley WB; Levy HL; Matalon R; Rouse BM; Trefz F; de la Cruz F; Koch R Pediatrics; 2003 Dec; 112(6 Pt 2):1530-3. PubMed ID: 14654659 [TBL] [Abstract][Full Text] [Related]
35. Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis". Scriver CR; Cole DE; Houghton SA; Levy HL; Grenier A; Laberge C Proc Natl Acad Sci U S A; 1980 Oct; 77(10):6175-8. PubMed ID: 6934544 [TBL] [Abstract][Full Text] [Related]
36. Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy. Oh HJ; Lee H; Park JW; Rhee H; Koo SK; Kang S; Jo I; Jung SC Mol Genet Metab; 2005 Dec; 86 Suppl 1():S124-32. PubMed ID: 16150627 [TBL] [Abstract][Full Text] [Related]
37. Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review. Liu Y; Dong Z; Yu S Clin Neurol Neurosurg; 2018 Aug; 171():151-155. PubMed ID: 29909188 [TBL] [Abstract][Full Text] [Related]