Phenylketonuria Research - Genetics, Causes, Symptoms, Hereditary Disorder

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.


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Volume 3 (2007), Issue 7 (July)

  1. A modern view of phenylalanine ammonia lyase.
    Biochem Cell Biol, 85(3): 273-282. [Abstract] [Full-text]
  2. Neonatal screening in Europe; the situation in 2004.
    J Inherit Metab Dis. [Abstract] [Full-text]
  3. Class selection of amino acid metabolites in body fluids using chemical derivatization and their enhanced 13C NMR.
    Proc Natl Acad Sci U S A, 104(28): 11540-4. [Abstract] [Full-text]
  4. Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin.
    Genet Test, 11(2): 174-8. [Abstract] [Full-text]
  5. Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria.
    Mol Genet Metab, 91(4): 325-34. [Abstract] [Full-text]
  6. A facile HPLC method for optical purity and quantitative measurements of phenylalanine from the hydrolyzed aspartame under different pH and temperature after its derivatization with a fluorescent reagent.
    Amino Acids, 33(1): 123-8. [Abstract] [Full-text]
  7. Long-term follow-up study of patients with phenylketonuria detected by the newborn screening programme in Japan.
    J Inherit Metab Dis. [Abstract] [Full-text]
  8. Expanded newborn screening in Europe 2007.
    J Inherit Metab Dis. [Abstract] [Full-text]
  9. Newborn screening in North America.
    J Inherit Metab Dis. [Abstract] [Full-text]
  10. Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
    J Chromatogr B Analyt Technol Biomed Life Sci, 855(1): 42-50. [Abstract] [Full-text]
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Phenylketonuria Research Today Archive:

Volume 1 (2005)
  Issue 1 (January)
  Issue 2 (February)
  Issue 3 (March)
  Issue 4 (April)
  Issue 5 (May)
  Issue 6 (June)
  Issue 7 (July)
  Issue 8 (August)
  Issue 9 (September)
  Issue 10 (October)
  Issue 11 (November)
  Issue 12 (December)

Volume 2 (2006)
  Issue 1 (January)
  Issue 2 (February)
  Issue 3 (March)
  Issue 4 (April)
  Issue 5 (May)
  Issue 6 (June)
  Issue 7 (July)
  Issue 8 (August)
  Issue 9 (September)
  Issue 10 (October)
  Issue 11 (November)
  Issue 12 (December)

Volume 3 (2007)
  Issue 1 (January)
  Issue 2 (February)
  Issue 3 (March)
  Issue 4 (April)
  Issue 5 (May)
  Issue 6 (June)
  Issue 7 (July)
  Issue 8 (August)
  Issue 9 (September)
  Issue 10 (October)
  Issue 11 (November)
  Issue 12 (December)

Volume 4 (2008)
  Issue 1 (January)
  Issue 2 (February)
  Issue 3 (March)
  Issue 4 (April)
  Issue 5 (May)
  Issue 6 (June)
  Issue 7 (July)
  Issue 8 (August)
  Issue 9 (September)
  Issue 10 (October)
  Issue 11 (November)
  Issue 12 (December)

Volume 5 (2009)
  Issue 1 (January)
  Issue 2 (February)
  Issue 3 (March)
  Issue 4 (April)
  Issue 5 (May)
  Issue 6 (June)
  Issue 7 (July)
  Issue 8 (August)
  Issue 9 (September)
  Issue 10 (October)
  Issue 11 (November)
  Issue 12 (December)

Volume 6 (2010)
  Issue 1 (January)
  Issue 2 (February)
  Issue 3 (March)



Phenylketonuria Books

Neurochemistry of Metabolic Diseases - Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease

Neurochemistry of Metabolic Diseases - Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease