Science news articles about 'pku'

  • Drug therapy for PKU reverses heart damage

    ... pressure, a study from Johns Hopkins shows. The common denominator in both phenylketonuria (PKU) and cardiac hypertrophy is the chemical tetrahydrobiopterin (BH4). In PKU, this enzyme coworker helps ...
  • JCI online early table of contents: July 1, 2008

    ... EDITOR'S PICK: Bringing stability to the protein defective in phenylketonuria Phenylketonuria (PKU) is an inherited disease characterized by progressive mental retardation and seizures because the ...
  • Bringing stability to the protein defective in phenylketonuria

    ... that it might be possible to stabilize the mutated PAH protein in individuals with PKU such that it can function normally. In the study, a high-throughput screen for small molecules that stabilized ...
  • Bringing Stability To The Protein Defective In Phenylketonuria

    ... and seizures because the individual is deficient in the protein PAH. Most of the genetic mutations that cause PKU do so because the PAH protein that is generated by the mutated gene is not stable ...
  • First trimester smoking linked to oral clefts

    ... samples were taken from the children referred for surgery and their PKU test samples, routinely taken at birth, ... , father (after November 1998) and child, plus the PKU test sample taken at birth. DNA ...

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