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 4 (2008), Issue 4 (April)

1. Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
   J Inherit Metab Dis. [Abstract] [Full-text]
2. Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria.
   Acta Paediatr, 97(5): 665-7. [Abstract] [Full-text]
3. Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.
   Clin Biochem, 41(7): 616-20. [Abstract] [Full-text]
4. A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.
   Ann Hum Genet, 72: 305-9. [Abstract] [Full-text]
5. Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria.
   Mol Genet Metab, 94(1): 46-51. [Abstract] [Full-text]
6. Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.
   J Inherit Metab Dis. [Abstract] [Full-text]
7. 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: 25. [Abstract] [Full-text]
8. MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients.
   J Magn Reson Imaging, 27(5): 998-1004. [Abstract] [Full-text]

© 2005-2010 Phenylketonuria Research Today. All Rights Reserved.