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  1. Frequently Asked Questions about PKU

    What is phenylketonuria/PKU? How frequent is phenylketonuria/PKU around the world? What ... of PKU? PKU is a genetic autosomal recessive disease. Classical phenylketonuria is caused by mutations in the q22-24 region of ... irritability, aggressiveness and autistic behavior of the classical presentation become evident. Is PKU a life threatening disease? ...

  2. SSIEM Congres report

    ... Resource type Article Section placement PKU Academy Topics Phenylketonuria (PKU) Specialty ... investigation of 60 adult PKU patients with early treated classical PKU aged 20 to 45 years alongside 60 healthy controls matched for age ...

  3. Perspective interview - Maria Gizewska

    Ru PKU patients are a community with common needs that are stronger than the ... committee of the ESPKU, she oversees a project to link PKU patients and professionals in West Pomerania in Poland and ... care. Most of her patients are children and teenagers with classical PKU, but she also takes care of a number with milder forms of ...

  4. From basic knowledge to daily management

    ... Resource type Article Section placement PKU Academy Topics Phenylketonuria (PKU) Specialty ... PKU/hyperphenylalanemia (HPA), the other two are models for classical PKU. PAH-enu2, the most widely used model, carries a missense ...

  5. XXV ESPKU Conference

    ... Resource type Article Section placement PKU Academy Topics Phenylketonuria (PKU) Specialty ... dietary treatment in patients diagnosed and treated late for classical PKU. Different genetic backgrounds can influence the degree of ...

  6. Perspective interview - Harvey Levy (PKU Heroes)

    Harvey Levy talks about his PKU Heroes and the future of newborn screening Prof Harvey Levy of Harvard ... (USA) gave the Asbjørn Følling lecture, ‘Heroes of PKU’, at the 4th European Phenylketonuria Group Symposium (Rome, Italy) ... certain mutations tend to be associated with a very severe classical form of PKU. We know that others tend to be associated with a milder ...

  7. PKU Academy Advanced Course - Neuropsycholgical outcomes

    ... screening and the resultant early dietary treatment of PKU have allowed vast improvements in the psychological and behavioural ... from 1995 to 2000. She obtained her PhD on the thesis “Classical Galactosemia Revisited” at the University of Amsterdam in 2004. ...

  8. 4th European Phenylketonuria Group Symposium

    ... Resource type Article Section placement PKU Academy Topics Phenylketonuria (PKU) Specialty ... of HPA that require treatment. The incidence of Type I HPA (classical PKU) is 1:17,905. Similar numbers of newborns, 1:17,362 are diagnosed ...

  9. 2014 Annual Multidisciplinary European Phenylketonuria Symposium: PKU a lifetime of challenges

    ... type Publication Section placement PKU Academy Topics Phenylketonuria (PKU) Specialty ... for mild PKU/ HPA ), and PAHenu2 and PAHenu3 (models for classical PKU). PAHenu2 mouse carries a missense mutation that completely ...