Phenylketonuria

1. Diamond A. Evidence for the importance of dopamine for prefrontal cortex functions early in life. Philos Trans R Soc Lond B Biol Sci 1996;351:1483–93 [review].

2. Cabalska MB, Nowaczewska I, Sendecka E, Zorska K. Longitudinal study on early diagnosis and treatment of phenylketonuria in Poland. Eur J Pediatr 1996;155 Suppl 1:S53–5.

3. Eisensmith RC, Woo SL. Gene therapy for phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S16–9 [review].

4. Lin CM, Tan Y, Lee YM, et al. Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer. J Inherit Metab Dis 1997;20:742–54.

5. Sarkissian CN, Shao Z, Blain F, et al. A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Natl Acad Sci 1999;96:2339–44.

6. Pietz J, Kreis R, Rupp A, et al. Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest 1999;103:1169–78.

7. Waisbren SE, Rokni H, Bailey I, et al. Social factors and the meaning of food in adherence to medical diets: results of a maternal phenylketonuria summer camp. J Inherit Metab Dis 1997;20:21–7.

8. Scheibenreiter S, Tiefenthaler M, Hinteregger V, et al. Austrian report on longitudinal outcome in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S45–9.

9. Weglage J, Funders B, Ullrich K, et al. Psychosocial aspects in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S101–4.

10. Brenton DP, Lilburn M. Maternal phenylketonuria. A study from the United Kingdom. Eur J Pediatr 1996;155 Suppl 1:S177–80.

11. Levy HL, Ghavami M. Maternal phenylketonuria: a metabolic teratogen. Teratology 1996;53:176–84 [review].

12. Cechak P, Hejcmanova L, Rupp A. Long-term follow-up of patients treated for phenylketonuria (PKU). Results from the Prague PKU Center. Eur J Pediatr 1996;155 Suppl 1:S59–63.

13. Cipcic-Schmidt S, Trefz FK, Funders B, et al. German Maternal Phenylketonuria Study. Eur J Pediatr 1996;155 Suppl 1:S173–6.

14. Rouse B, Azen C, Koch R, et al. Maternal Phenylketonuria Collaborative Study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelae. Am J Med Genet 1997;69:89–95.

15. Mackey SA, Berlin CM Jr. Effect of dietary aspartame on plasma concentrations of phenylalanine and tyrosine in normal and homozygous phenylketonuric patients. Clin Pediatr 1992;31:394–9.

16. Diamond A. Evidence for the importance of dopamine for prefrontal cortex functions early in life. Philos Trans R Soc Lond B Biol Sci 1996;351:1483–93 [review].

17. Cockburn F, Clark BJ. Recommendations for protein and amino acid intake in phenylketonuric patients. Eur J Pediatr 1996;155 Suppl 1:S125–9.

18. Koch R, Moseley K, Ning J, et al. Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria. Mol Genet Metab 1999;67:148–55.

19. Yannicelli S, Ryan A. Improvements in behavior and physical manifestations in previously untreated adults with phenylketonuria using a phenylalanine-restricted diet: a national survey. J Inherit Metab Dis 1995;18:131–4.

20. Williams K. Benefits of normalizing plasma phenylalanine: impact on behavior and health. A case report. J Inherit Metab Dis 1998;21:785–90.

21. Arnold G, Kramer BM, Kirby RS, et al. Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria. Acta Paediatr 1998;87:565–70.

22. Baumeister AA, Baumeister AA. Dietary treatment of destructive behavior associated with hyperphenylalaninemia. Clin Neuropharmacol 1998;21:18–27 [review].

23. Griffiths P, Ward N, Harvie A, Cockburn F. Neuropsychological outcome of experimental manipulation of phenylalanine intake in treated phenylketonuria. J Inherit Metab Dis 1998;21:29–38.

24. Griffiths P, Smith C, Harvie A. Transitory hyperphenylalaninaemia in children with continuously treated phenylketonuria. Am J Ment Retard 1997;102:27–36.

25. Cerone R, Schiaffino MC, Di Stefano S, Veneselli E. Phenylketonuria: diet for life or not? Acta Paediatrica 1999;88:664–6.

26. Diamond A, Prevor MB, Callender G, Druin DP. Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. Monogr Soc Res Child Dev 1997;62:1–208.

27. Griffiths P, Ward N, Harvie A, Cockburn F. Neuropsychological outcome of experimental manipulation of phenylalanine intake in treated phenylketonuria. J Inherit Metab Dis 1998;21:29–38.

28. Ullrich K. Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr 1999;158:46–54.

29. Fisch RO, Matalon R, Weisberg S, Michals K. Phenylketonuria: current dietary treatment practices in the United States and Canada. J Am Coll Nutr 1997;16:147–51.

30. Start K. Treating phenylketonuria by a phenylalanine-free diet. Prof Care Mother Child 1998;8:109–10 [review].

31. Davidson PW. Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria. Acta Paediatr 1998;87:565–70.

32. Schulpis KH, Nyalala JO, Papakonstantinou ED, et al. Biotin recycling impairment in phenylketonuric children with seborrheic dermatitis. Int J Dermatol 1998;37:918–21.

33. Berry HK, Brunner RL, Hunt MM, et al. Valine, isoleucine, and leucine. A new treatment for phenylketonuria. Am J Dis Child 1990;144:539–43.

34. Giovannini M, Agostoni C, Biasucci G, et al. Fatty acid metabolism in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S132–5.

35. Agostoni C, Riva E, Biasucci G, et al. The effects of n-3 and n-6 polyunsaturated fatty acids on plasma lipids and fatty acids of treated phenylketonuric children. Prostaglandins Leukot Essent Fatty Acids 1995;53:401–4.

36. Beblo S, Reinhardt H, Demmelmair H, et al. Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. J Pediatr 2007;150:479–84.

37. Agostoni C, Marangoni F, Riva E, et al. Plasma arachidonic acid and serum thromboxane B2 concentrations in phenylketonuric children negatively correlate with dietary compliance. Prostaglandins Leukot Essent Fatty Acids 1997;56:219–22.

38. Giovannini M, Agostoni C, Biasucci G, et al. Fatty acid metabolism in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S132–5.

39. Poge AP, Baumann K, Muller E, et al. Long-chain polyunsaturated fatty acids in plasma and erythrocyte membrane lipids of children with phenylketonuria after controlled linoleic acid intake. J Inherit Metab Dis 1998;21:373–81.

40. Jochum F, Terwolbeck K, Meinhold H, et al. Effects of a low selenium state in patients with phenylketonuria. Acta Paediatr 1997;86:775–7.

41. Kauf E, Seidel J, Winnefeld K, et al. Selenium in phenylketonuria patients. Effects of sodium selenite administration. Med Klin 1997;92 Suppl 3:31–4 [in German].

42. Sierra C, Vilaseca MA, Moyano D, et al. Antioxidant status in hyperphenylalaninemia. Clin Chim Acta 1998;276:1–9.

43. Gropper SS, Naglak MC, Nardella M, et al. Nutrient intakes of adolescents with phenylketonuria and infants and children with maple syrup urine disease on semisynthetic diets. J Am Coll Nutr 1993;12:108–14.

44. Hanley WB, Feigenbaum AS, Clarke JT, et al. Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S145–7.

45. Schulpis KH, Platokouki H, Papakonstantinou ED, et al. Haemostatic variables in phenylketonuric children under dietary treatment. J Inherit Metab Dis 1996;19:603–9.

46. Sierra C, Vilaseca MA, Moyano D, et al. Antioxidant status in hyperphenylalaninemia. Clin Chim Acta 1998;276:1–9.

47. Kauf E, Seidel J, Winnefeld K, et al. Selenium in phenylketonuria patients. Effects of sodium selenite administration. Med Klin 1997;92 Suppl 3:31–4 [in German].

48. Lombeck I, Jochum F, Terwolbeck K. Selenium status in infants and children with phenylketonuria and in maternal phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S140–4.

49. Agostoni C, Marangoni F, Riva E, et al. Plasma arachidonic acid and serum thromboxane B2 concentrations in phenylketonuric children negatively correlate with dietary compliance. Prostaglandins Leukot Essent Fatty Acids 1997;56:219–22.

50. Giovannini M, Agostoni C, Biasucci G, et al. Fatty acid metabolism in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S132–5.

51. Poge AP, Baumann K, Muller E, et al. Long-chain polyunsaturated fatty acids in plasma and erythrocyte membrane lipids of children with phenylketonuria after controlled linoleic acid intake. J Inherit Metab Dis 1998;21:373–81.

52. Jochum F, Terwolbeck K, Meinhold H, et al. Effects of a low selenium state in patients with phenylketonuria. Acta Paediatr 1997;86:775–7.

53. Kauf E, Seidel J, Winnefeld K, et al. Selenium in phenylketonuria patients. Effects of sodium selenite administration. Med Klin 1997;92 Suppl 3:31–4 [in German].

54. Sierra C, Vilaseca MA, Moyano D, et al. Antioxidant status in hyperphenylalaninemia. Clin Chim Acta 1998;276:1–9.

55. Gropper SS, Naglak MC, Nardella M, et al. Nutrient intakes of adolescents with phenylketonuria and infants and children with maple syrup urine disease on semisynthetic diets. J Am Coll Nutr 1993;12:108–14.

56. Hanley WB, Feigenbaum AS, Clarke JT, et al. Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S145–7.

57. Schulpis KH, Platokouki H, Papakonstantinou ED, et al. Haemostatic variables in phenylketonuric children under dietary treatment. J Inherit Metab Dis 1996;19:603–9.

58. Hanley WB, Feigenbaum AS, Clarke JT, et al. Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S145–7.

59. Agostoni C, Marangoni F, Riva E, et al. Plasma arachidonic acid and serum thromboxane B2 concentrations in phenylketonuric children negatively correlate with dietary compliance. Prostaglandins Leukot Essent Fatty Acids 1997;56:219–22.

60. Giovannini M, Agostoni C, Biasucci G, et al. Fatty acid metabolism in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S132–5.

61. Poge AP, Baumann K, Muller E, et al. Long-chain polyunsaturated fatty acids in plasma and erythrocyte membrane lipids of children with phenylketonuria after controlled linoleic acid intake. J Inherit Metab Dis 1998;21:373–81.

62. Jochum F, Terwolbeck K, Meinhold H, et al. Effects of a low selenium state in patients with phenylketonuria. Acta Paediatr 1997;86:775–7.

63. Kauf E, Seidel J, Winnefeld K, et al. Selenium in phenylketonuria patients. Effects of sodium selenite administration. Med Klin 1997;92 Suppl 3:31–4 [in German].

64. Sierra C, Vilaseca MA, Moyano D, et al. Antioxidant status in hyperphenylalaninemia. Clin Chim Acta 1998;276:1–9.

65. Gropper SS, Naglak MC, Nardella M, et al. Nutrient intakes of adolescents with phenylketonuria and infants and children with maple syrup urine disease on semisynthetic diets. J Am Coll Nutr 1993;12:108–14.

66. Hanley WB, Feigenbaum AS, Clarke JT, et al. Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S145–7.

67. Schulpis KH, Platokouki H, Papakonstantinou ED, et al. Haemostatic variables in phenylketonuric children under dietary treatment. J Inherit Metab Dis 1996;19:603–9.

68. Schulpis KH, Platokouki H, Papakonstantinou ED, et al. Haemostatic variables in phenylketonuric children under dietary treatment. J Inherit Metab Dis 1996;19:603–9.