Literature : Phenylketonuria PKU
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| Books 2006 |
| 1. |
Blau N, PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin. SPS Publications, Heilbronn, 2006
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| Literature 2010 |
| 2. |
Blau, N., A. Belanger-Quintana, M. Demirkol, F. Feillet, M. Giovannini, A. Macdonald, F. K. Trefz and F. V. Spronsen (2010). "Management of phenylketonuria in Europe: Survey results from 19 countries." Mol Genet Metab 99: 109-115.
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| 3. |
Dobrowolski, S. F., H. S. Andersen, T. K. Doktor and B. S. Andresen (2010). "The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer." Mol Genet Metab. Epub ahead of press
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| 4. |
Feillet, F., F. J. van Spronsen, A. MacDonald, F. K. Trefz, M. Demirkol, M. Giovannini, A. Blanger-Quintana and N. Blau (2010). "Challenges and pitfalls in the management of phenylketonuria." Pediatrics 126: 333-341.
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| 5. |
Gokmen, T., S. S. Oguz, N. Altug, M. Akar, O. Erdeve and U. Dilmen (2010). "A Case of Maternal Phenylketonuria Syndrome Presenting With Unilateral Renal Agenesis." J Trop Pediatr. Epub ahead of press
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| 6. |
Rebuffat, A., C. O. Harding, Z. Ding and T. Beat (2010). "Comparison of AAV Pseudotype 1, 2, and 8 Vectors Administered by Intramuscular Injection in the Treatment of Murine Phenylketonuria." Hum Gene Ther.21:463-477
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| 7. |
Trefz, F. K., D. Scheible and G. Frauendienst-Egger "Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment." J Inherit Metab Dis. Epub ahead of press
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| Literature 2009 |
| 8. |
Albrecht, J., S. F. Garbade and P. Burgard (2009). "Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis." Neurosci Biobehav Rev 33(3): 414-21.
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| 9. |
Araujo, G. C., S. E. Christ, R. D. Steiner, D. K. Grange, B. Nardos, R. C. McKinstry and D. A. White (2009). "Response monitoring in children with phenylketonuria." Neuropsychology 23(1): 130-4.
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| 10. |
Azadi, B., A. Seddigh, M. Tehrani-Doost, J. Alaghband-Rad and M. R. Ashrafi (2009). "Executive dysfunction in treated phenylketonuric patients." Eur Child Adolesc Psychiatry. Epub ahead of press
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| 11. |
Bik-Multanowski, M. and J. J. Pietrzyk (2009). "[Genotyping and treatment modification in patients with phenylketonuria: an introduction to pharmacogenomics]." Przegl Lek 66(1-2): 1-3. (Polish)
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| 12. |
Blau, N. and B. Thony (2009). "Tetrahydrobiopterin in biomedical research." J Inherit Metab Dis 32(1): 1-2.
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| 13. |
Blau, N., A. Belanger-Quintana, M. Demirkol, F. Feillet, M. Giovannini, A. Macdonald, F. K. Trefz and F. J. van Spronsen (2009). "Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria." Mol Genet Metab. 96: 158-163
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| 14. |
Bouchlariotou, S., P. Tsikouras and G. Maroulis (2009). "Undiagnosed maternal phenylketonuria: own clinical experience and literature review." J Matern Fetal Neonatal Med: 1-6.
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| 15. |
Bouchlariotou, S., P. Tsikouras and G. Maroulis (2009). "Undiagnosed maternal phenylketonuria: own clinical experience and literature review." J Matern Fetal Neonatal Med: 1-6.
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| 16. |
Burlina, A. and N. Blau (2009). "Effect of BH(4) supplementation on phenylalanine tolerance." J Inherit Metab Dis 32(1): 40-5.
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| 17. |
Daniele, A., I. Scala, G. Cardillo, C. Pennino, C. Ungaro, M. Sibilio, G. Parenti, L. Esposito, A. Zagari, G. Andria and F. Salvatore (2009). "Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy." FEBS J 276(7): 2048-59.
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| 18. |
Dobrowolski, S. F., K. Borski, C. C. Ellingson, R. Koch, H. L. Levy and E. W. Naylor (2009). "A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin." J Hum Genet. Epub ahead of press
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| 19. |
Gonzalez, E. C., A. Frometa, L. Del Rio, E. Castells, M. S. Robaina, S. M. Garcia, T. Licourt, A. L. Arteaga and L. Martinez (2009). "Cuban neonatal screening of phenylketonuria using an ultramicro-fluorometric test." Clin Chim Acta. Epub ahead of press
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| 20. |
Gramer, G., S. F. Garbade, N. Blau and M. Lindner (2009). "Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria." J Inherit Metab Dis 32(1): 52-7.
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| 21. |
Gunasekera, R. S. and K. Hyland (2009). "In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model." Mol Genet Metab. Epub ahead of press
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| 22. |
Gunasekera, R. S. and K. Hyland (2009). "In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model." Mol Genet Metab. Epub ahead of press
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| 23. |
Hoeks, M. P., M. den Heijer and M. C. Janssen (2009). "Adult issues in phenylketonuria." Neth J Med 67(1): 2-7.
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| 24. |
Hoeksma, M., D. J. Reijngoud, J. Pruim, H. W. de Valk, A. M. Paans and F. J. van Spronsen (2009). "Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis." Mol Genet Metab.Epub ahead of press
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| 25. |
Karacic, I., D. Meili, V. Sarnavka, C. Heintz, B. Thony, D. P. Ramadza, K. Fumic, D. Mardesic, I. Baric and N. Blau (2009). "Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency." Mol Genet Metab 97(3): 165-71.
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| 26. |
Kohlschutter, B., M. Ellerbrok, M. Merkel, M. Tchirikov, J. Zschocke, R. Santer and K. Ullrich (2009). "Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status." J Inherit Metab Dis. Epub ahead of press
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| 27. |
Koletzko, B., S. Beblo, H. Demmelmair, W. Muller-Felber and F. L. Hanebutt (2009). "Does dietary DHA improve neural function in children? Observations in phenylketonuria." Prostaglandins Leukot Essent Fatty Acids. Epub ahead of press
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| 28. |
Kyprianou, N., E. Murphy, P. Lee and I. Hargreaves (2009). "Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia." J Inherit Metab Dis. Epub ahead of press
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| 29. |
Langenbeck, U., P. Burgard, U. Wendel, M. Lindner and J. Zschocke (2009). "Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test." J Inherit Metab Dis. Epub ahead of press
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| 30. |
Lehnen, H., M. Vinke, C. Schwennicke and U. Pascheberg (2009). "Classic maternal phenylketonuria and sonographic evidence of fetal trisomy 21: first description." Z Geburtshilfe Neonatol 213(1): 1-5.[Article in German]
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| 31. |
Park, J. W., E. S. Park, E. N. Choi, H. Y. Park and S. C. Jung (2009). "Altered brain gene expression profiles associated with the pathogenesis of phenylketonuria in a mouse model." Clin Chim Acta 401(1-2): 90-9.
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| 32. |
Posner, J., D. Gorman and B. J. Nagel (2009). "Tyrosine supplements for ADHD symptoms with comorbid phenylketonuria." J Neuropsychiatry Clin Neurosci 21(2): 228-30.
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| 33. |
Rocha, J. C. and F. Martel (2009). "Large neutral amino acids supplementation in phenylketonuric patients." J Inherit Metab Dis. Epub ahead of press
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| 34. |
Santillan, D. A., M. K. Santillan and S. K. Hunter (2009). "Cell encapsulation as a potential nondietary therapy for maternal phenylketonuria." Am J Obstet Gynecol. Epub ahead of press
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| 35. |
Scarabino, T., T. Popolizio, M. Tosetti, D. Montanaro, G. M. Giannatempo, R. Terlizzi, S. Pollice, A. Maiorana, N. Maggialetti, A. Carriero, V. Leuzzi and U. Salvolini (2009). "Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion." Radiol Med. Epub ahead of press
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| 36. |
Sharman, R., K. Sullivan, R. Young and J. McGill (2009). "Biochemical markers associated with executive function in adolescents with early and continuously treated phenylketonuria." Clin Genet 75(2): 169-74.
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| 37. |
Sidell, N., L. Hao, M. Pasquali and J. D. McDonald (2009). "Carcinogenic effects in a phenylketonuria mouse model." PLoS ONE 4(1): e4292.
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| 38. |
Steventon, G. B., S. C. Mitchell, B. Perez, L. R. Desviat and M. Ugarte (2009). "The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-l-cysteine." Mol Genet Metab 96(1): 27-31.
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| 39. |
Stojiljkovic, M., B. Perez, L. R. Desviat, C. Aguado, M. Ugarte and S. Pavlovic (2009). "The Missense p.S231F Phenylalanine Hydroxylase Gene Mutation Causes Complete Loss of Enzymatic Activity In Vitro." Protein J. Epub ahead of press
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| 40. |
Trefz, F. K., B. K. Burton, N. Longo, M. M. Casanova, D. J. Gruskin, A. Dorenbaum, E. D. Kakkis, E. A. Crombez, D. K. Grange, P. Harmatz, M. H. Lipson, A. Milanowski, L. M. Randolph, J. Vockley, C. B. Whitley, J. A. Wolff, J. Bebchuk, H. Christ-Schmidt and J. B. Hennermann (2009). "Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study." J Pediatr.Epub ahead of press
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| 41. |
van Spronsen, F. (2009). "Adults with late diagnosed PKU and severe challenging behaviour." J Neurol Neurosurg Psychiatry 80(6): 585-6.
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| 42. |
van Spronsen, F. J., K. K. Ahring and M. Gizewska (2009). "PKU-what is daily practice in various centres in Europe? Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders." J Inherit Metab Dis 32(1): 58-64.
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| 43. |
van Spronsen, F. J., M. Hoeksma and D. J. Reijngoud (2009). "Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause?" J Inherit Metab Dis 32(1): 46-51.
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| 44. |
Yu, W., D. Qiu, F. Song, L. Liu, S. Liu, X. He, Y. Jin, Y. Zhang, H. Zou, J. He, Q. Lei and X. Liu (2009). "Characteristics of the PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang.." Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26(1): 26-30. [Chinese]
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| 45. |
Zhu, T., S. Qin, J. Ye, W. Qiu, L. Han, Y. Zhang and X. Gu (2009). "Mutational spectrum of Phenylketonuria in the Chinese Han population: A novel insight into the geographic distribution of the common mutations." Pediatr Res. Epub ahead of press
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| Literature 2008 |
| 46. |
"Screening for phenylketonuria (PKU): US Preventive Services Task Force Reaffirmation recommendation." Ann Fam Med (2008) 6(2): 166.
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| 47. |
(2008). "Sapropterin (Kuvan) for phenylketonuria." Med Lett Drugs Ther 50(1287): 43-4.
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| 48. |
Albrecht, J., S. F. Garbade and P. Burgard (2008). "Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: A meta-analysis." Neurosci Biobehav Rev. Epub ahead of press
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| 49. |
Barretto, J. R., L. R. Silva, M. E. Leite, N. Boa-Sorte, H. Pimentel, A. C. Purificacao, G. Carvalho, M. I. Fontes and T. Amorim (2008). "Poor zinc and selenium status in phenylketonuric children and adolescents in Brazil." Nutr Res 28(3): 208-11.
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| 50. |
Bercovich, D., A. Elimelech, J. Zlotogora, S. Korem, T. Yardeni, N. Gal, N. Goldstein, B. Vilensky, R. Segev, S. Avraham, R. Loewenthal, G. Schwartz and Y. Anikster (2008). "Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene." J Hum Genet. Epub ahead of press
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| 51. |
Bercovich, D., A. Elimelech, T. Yardeni, S. Korem, J. Zlotogora, N. Gal, N. Goldstein, B. Vilensky, R. Segev, S. Avraham, R. Loewenthal, G. Schwartz and Y. Anikster (2008). "A Mutation Analysis of the Phenylalanine Hydroxylase (PAH) Gene in the Israeli Population." Ann Hum Genet. Epub ahead of press
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| 52. |
Bik-Multanowski, M., B. Didycz, R. Mozrzymas, M. Nowacka, L. Kaluzny, W. Cichy, B. Schneiberg, J. Amilkiewicz, A. Bilar, M. Gizewska, A. Lange, E. Starostecka, A. Chrobot, B. I. Wojcicka-Bartlomiejczyk and A. Milanowski (2008). "Quality of life in noncompliant adults with phenylketonuria after resumption of the diet." J Inherit Metab Dis. Epub ahead of press
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| 53. |
Bik-Multanowski, M., J. J. Pietrzyk, B. Didycz and A. Szymczakiewicz-Multanowska (2008). "Development of a model for assessment of phenylalanine hydroxylase activity in newborns with phenylketonuria receiving tetrahydrobiopterin: A potential for practical implementation." Mol Genet Metab. Epub ahead of press (letter)
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| 54. |
Blau, N. (2008). "Defining tetrahydrobiopterin (BH(4))-responsiveness in PKU." J Inherit Metab Dis 31(1): 2-3.
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| 55. |
Brosco, J. P., L. M. Sanders, M. I. Seider and A. C. Dunn (2008). "Adverse medical outcomes of early newborn screening programs for phenylketonuria." Pediatrics 122(1): 192-7.
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| 56. |
Daniele, A., G. Cardillo, C. Pennino, M. T. Carbone, D. Scognamiglio, L. Esposito, A. Correra, G. Castaldo, A. Zagari and F. Salvatore (2008). "Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants." Biochim Biophys Acta. Epub ahead of press
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| 57. |
DeRoche, K. and M. Welsh (2008). "Twenty-five years of research on neurocognitive outcomes in early-treated phenylketonuria: intelligence and executive function." Dev Neuropsychol 33(4): 474-504.
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| 58. |
Ding, X. Q., J. Fiehler, B. Kohlschutter, O. Wittkugel, U. Grzyska, H. Zeumer and K. Ullrich (2008). "MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients." J Magn Reson Imaging 27(5): 998-1004.
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| 59. |
Ding, Z., C. O. Harding, A. Rebuffat, L. Elzaouk, J. A. Wolff and B. Thony (2008). "Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system." Mol Ther 16(4): 673-81.
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| 60. |
Dobrowolski, S. F., A. L. Pey, R. Koch, H. Levy, C. C. Ellingson, E. W. Naylor and A. Martinez (2008). "Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients." J Inherit Metab Dis. Epub ahead of press
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| 61. |
Doggrell, S. A. (2008). "Is sapropterin treatment suitable for all subjects with phenylketonuria?" Expert Opin Pharmacother 9(1): 145-7.
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| 62. |
Durham-Shearer, S. J., P. A. Judd, K. Whelan and J. E. Thomas (2008). "Knowledge, compliance and serum phenylalanine concentrations in adolescents and adults with phenylketonuria and the effect of a patient-focused educational resource." J Hum Nutr Diet 21(5): 474-85.
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| 63. |
Feillet, F. (2008). "BH4 in the management of phenylketonuria." Arch Pediatr 15(5): 606-607. [French]
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| 64. |
Feillet, F., C. Chery, F. Namour, A. Kimmoun, E. Favre, E. Lorentz, S. F. Battaglia-Hsu and J. L. Gueant (2008). "Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia." Early Hum Dev. Epub ahead of press
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| 65. |
Feillet, F., L. Clarke, C. Meli, M. Lipson, A. A. Morris, P. Harmatz, D. R. Mould, B. Green, A. Dorenbaum, M. Giovannini and E. Foehr (2008). "Pharmacokinetics of Sapropterin in Patients with Phenylketonuria." Clin Pharmacokinet 47(12): 817-825.
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| 66. |
Gokmen Ozel, H., T. Kucukkasap, G. Koksal, H. S. Kalkanoglu Sivri, A. Dursun, A. Tokatli and T. Coskun (2008). "Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria?" J Inherit Metab Dis. Epub ahead of press
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| 67. |
Hanley, W. B. (2008). "Finding the fertile woman with phenylketonuria." Eur J Obstet Gynecol Reprod Biol. Epub ahead of press
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| 68. |
Hardelid, P., M. Cortina-Borja, A. Munro, H. Jones, M. Cleary, M. P. Champion, Y. Foo, C. R. Scriver and C. Dezateux (2008). "The Birth Prevalence of PKU in Populations of European, South Asian and Sub-Saharan African Ancestry Living in South East England." Ann Hum Genet 72(Pt 1): 65-71.
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| 69. |
Harding, C. O. (2008). "Progress toward cell-directed therapy for phenylketonuria." Clin Genet. Epub ahead of press
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| 70. |
Jung, S. C., J. W. Park, H. J. Oh, J. O. Choi, K. I. Seo, E. S. Park and H. Y. Park (2008). "Protective effect of recombinant adeno-associated virus 2/8-mediated gene therapy from the maternal hyperphenylalaninemia in offsprings of a mouse model of phenylketonuria." J Korean Med Sci 23(5): 877-83.
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| 71. |
Koch, R. (2008). "Maternal phenylketonuria and tetrahydrobiopterin." Pediatrics 122(6): 1367-8.
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| 72. |
Koch, R., S. Verma and F. H. Gilles (2008). "Neuropathology of a 4-month-old infant born to a woman with phenylketonuria." Dev Med Child Neurol. Epub ahead of press
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| 73. |
Langenbeck, U. (2008). "Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias." J Inherit Metab Dis. Epub ahead of press
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| 74. |
Lee, P., E. P. Treacy, E. Crombez, M. Wasserstein, L. Waber, J. Wolff, U. Wendel, A. Dorenbaum, J. Bebchuk, H. Christ-Schmidt, M. Seashore, M. Giovannini, B. K. Burton and A. A. Morris (2008). "Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria." Am J Med Genet A. Epub ahead of press
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| 75. |
Lee, Y. W., D. H. Lee, N. D. Kim, S. T. Lee, J. Y. Ahn, T. Y. Choi, Y. K. Lee, S. H. Kim, J. W. Kim and C. S. Ki (2008). "Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria." Exp Mol Med 40(5): 533-40.
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| 76. |
Lord, B., J. Ungerer and C. Wastell (2008). "Implications of Resolving the Diagnosis of PKU for Parents and Children." J Pediatr Psychol. Epub ahead of press
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| 77. |
Macdonald, A., P. Lee, P. Davies, A. Daly, M. Lilburn, H. Gokmen Ozel, M. A. Preece, C. Hendriksz and A. Chakrapani (2008). "Long-term compliance with a novel vitamin and mineral supplement in older people with PKU." J Inherit Metab Dis. Epub ahead of press
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| 78. |
Maillot, F., M. Lilburn, J. Baudin, D. W. Morley and P. J. Lee (2008). "Factors influencing outcomes in the offspring of mothers with phenylketonuria during pregnancy: the importance of variation in maternal blood phenylalanine." Am J Clin Nutr 88(3): 700-5.
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| 79. |
Michals-Matalon, K. (2008). "Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria." Expert Opin Investig Drugs 17(2): 245-51.
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| 80. |
Nascimento, C., J. Leandro, I. Tavares de Almeida and P. Leandro (2008). "Modulation of the Activity of Newly Synthesized Human Phenylalanine Hydroxylase Mutant Proteins by Low-Molecular-Weight Compounds." Protein J. Epub ahead of press
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| 81. |
Neurauter, G., K. Schrocksnadel, S. Scholl-Burgi, B. Sperner-Unterweger, C. Schubert, M. Ledochowski and D. Fuchs (2008). "Chronic immune stimulation correlates with reduced phenylalanine turnover." Curr Drug Metab 9(7): 622-7.
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| 82. |
Ney, D. M., A. K. Hull, S. C. van Calcar, X. Liu and M. R. Etzel (2008). "Dietary Glycomacropeptide Supports Growth and Reduces the Concentrations of Phenylalanine in Plasma and Brain in a Murine Model of Phenylketonuria." J Nutr 138(2): 316-322.
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| 83. |
Ney, D. M., S. T. Gleason, S. C. van Calcar, E. L. Macleod, K. L. Nelson, M. R. Etzel, G. M. Rice and J. A. Wolff (2008). "Nutritional management of PKU with glycomacropeptide from cheese whey." J Inherit Metab Dis. Epub ahead of press
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| 84. |
Olsson, G. M., S. Marild, J. Alm, U. Brodin, P. A. Rydelius and C. Marcus (2008). "The Adolescent Adjustment Profile (AAP) in comparisons of patients with obesity, phenylketonuria or neurobehavioural disorders." Nord J Psychiatry 62(1): 66-76.
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| 85. |
Park, J. W., E. S. Park, E. N. Choi, H. Y. Park and S. C. Jung (2008). "Altered brain gene expression profiles associated with the pathogenesis of phenylketonuria in a mouse model." Clin Chim Acta Epubahead of press
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| 86. |
Pascucci, T., D. Andolina, R. Ventura, S. Puglisi-Allegra and S. Cabib (2008). "Reduced availability of brain amines during critical phases of postnatal development in a genetic mouse model of cognitive delay." Brain Res. Epub ahead of press
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| 87. |
Pey, A. L., M. Ying, N. Cremades, A. Velazquez-Campoy, T. Scherer, B. Thony, J. Sancho and A. Martinez (2008). "Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria." J Clin Invest. Epub ahead of press
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| 88. |
Ponzone, A., M. Spada, L. Roasio, F. Porta, A. Mussa and S. Ferraris (2008). "Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria." J Pediatr Gastroenterol Nutr 46(5): 561-9.
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| 89. |
Sarkissian, C. N., A. Gamez and C. R. Scriver (2008). "What we know that could influence future treatment of phenylketonuria." J Inherit Metab Dis. Epub ahead of press
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| 90. |
Sarkissian, C. N., A. Gamez, L. Wang, M. Charbonneau, P. Fitzpatrick, J. F. Lemontt, B. Zhao, M. Vellard, S. M. Bell, C. Henschell, A. Lambert, L. Tsuruda, R. C. Stevens and C. R. Scriver (2008). "Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria." Proc Natl Acad Sci U S A. Epub ahead of press
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| 91. |
Schumacher, U., Z. Lukacs, C. Kaltschmidt, C. Freudlsperger, D. Schulz, K. Kompisch, R. Muller, T. Rudolph, R. Santer, D. W. Lorke and K. Ullrich (2008). "High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: Implications for the pathophysiology of phenylketonuria." Neurobiol Dis. Epub ahead of press
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| 92. |
Shahbaz Mohammadi, H., E. Omidinia and H. Taherkhani (2008). "Rapid one-step separation and purification of recombinant phenylalanine dehydrogenase in aqueous two-phase systems." Iran Biomed J 12(2): 115-22.
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| 93. |
Simon, E., M. Schwarz, J. Roos, N. Dragano, M. Geraedts, J. Siegrist, G. Kamp and U. Wendel (2008). "Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)." Health Qual Life Outcomes 6(1): 25.
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| 94. |
Teissier, R. and L. de Parscau (2008). "[Maternal phenylketonuria: the challenge of the second generation.]." Arch Pediatr 15(5): 766-8.
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| 95. |
Trefz, F. K., D. Scheible, H. Gotz and G. Frauendienst-Egger (2008). "Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria." J Inherit Metab Dis. Epub ahead of press
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