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  1. Asbjørn Følling Lecture and award

    ... of metabolism’ stated Prof Trefz. ‘The detection of this disease by Dr Asbjørn Følling (1888—1973) shows us the importance of ... in a multidisciplinary specialized team. ‘PKU is a disease model for inborn errors of metabolism. History shows the progress on ...

  2. 1st European Phenylketonuria Group (EPG) Symposium - Advances and challenges in PKU

    ... PKU has become the flagship for treatable genetic disease. Despite this wonderful advance, however, there remains a number of ...

  3. Perspective interview - Harvey Levy (newborn screening)

    ... you can theoretically identify virtually any genetic disease as well as variations within those disorders that may be important for ... misinterpret what we see. We could think that the baby has a disease because we find a variation in the DNA that in actuality is simply a ...

  4. Perspective interview - Francjan van Spronsen

    ... still have a long way to go before we fully understand the disease, ‘We do not understand what goes on in the brain of a PKU patient. ...

  5. 4th European Phenylketonuria Group Symposium

    ... the so-called BH4-responders, is changing the way the disease is being treated across the world. Prof Nenad Blau2 discussed other ...

  6. 2014 Annual Multidisciplinary European Phenylketonuria Symposium: PKU a lifetime of challenges

    ... is  focusing  on  the  pathophysiology  of  this  disease,  on  its neurocognitive impact, on its appropriate management and on ... the  pathophysiological  insights  into  the  disease  and  its neurocognitive repercussion on patients, and compare ways ...

  7. XXV ESPKU Conference

    ... is to help patients and their families understand about the disease and its therapy. If there are opportunities to assess understanding, ... increasing patients’ and relatives’ capacity to face the disease, even in adverse situations. Improving adherence is a continuous ...