Phenylketonuria Research Today is a free monthly online journal that collates and summarizes the latest research about Phenylketonuria, including details on genetics, causes, symptoms, hereditary disorder.

Volume 1 (2005), Issue 12 (December)

1. Phenylalanine ammonia-lyase modified with polyethylene glycol: Potential therapeutic agent for phenylketonuria.
   Amino Acids, 29(3): 283-7. [Abstract] [Full-text]
2. Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.
   Mol Genet Metab, 86: S91-5. [Abstract] [Full-text]
3. Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
   Mol Genet Metab, 86: S96-103. [Abstract] [Full-text]
4. Phenylketonuria mutations in Northern China.
   Mol Genet Metab, 86: S107-18. [Abstract] [Full-text]
5. Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin.
   Mol Genet Metab, 86: S75-80. [Abstract] [Full-text]
6. Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
   Mol Genet Metab, 86: S67-74. [Abstract] [Full-text]
7. Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex.
   Mol Genet Metab, 86: S119-23. [Abstract] [Full-text]
8. Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now?
   Mol Genet Metab, 86: S22-6. [Abstract] [Full-text]
9. Use of handheld computers for assessment of prefrontal cortex function in patients with phenylketonuria.
   Mol Genet Metab, 86: S142-4. [Abstract] [Full-text]
10. Impaired glutamatergic synaptic transmission in the PKU brain.
    Mol Genet Metab, 86: S34-42. [Abstract] [Full-text]
11. Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy.
    Mol Genet Metab, 86: S124-32. [Abstract] [Full-text]
12. Decreased phenylalanine uptake and turnover in patients with vitiligo.
    Mol Genet Metab, 86: S27-33. [Abstract] [Full-text]
13. Response of patients with phenylketonuria in the US to tetrahydrobiopterin.
    Mol Genet Metab, 86: S17-21. [Abstract] [Full-text]
14. Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience.
    Mol Genet Metab, 86: S81-5. [Abstract] [Full-text]
15. Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria.
    Mol Genet Metab, 86: S86-90. [Abstract] [Full-text]
16. The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: an isothermal titration calorimetry study.
    Mol Genet Metab, 86: S43-53. [Abstract] [Full-text]
17. Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists.
    BMC Bioinformatics, 6: S18. [Abstract] [Full-text]
18. Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?
    Clin Biochem, 38(12): 1127-32. [Abstract] [Full-text]
19. Treatment of infants with congenital toxoplasmosis: tolerability and plasma concentrations of sulfadiazine and pyrimethamine.
    Eur J Pediatr, 165(1): 19-25. [Abstract] [Full-text]
20. Quantitative bacterial micro-assay for rapid detection of serum phenylalanine on dry blood-spots: application in phenylketonuria screening.
    Clin Chem Lab Med, 44(1): 76-9. [Abstract] [Full-text]
21. Adrenoleukodystrophy: new approaches to a neurodegenerative disease.
    JAMA, 294(24): 3131-4. [Abstract] [Full-text]

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