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  1. Recommended reading – key published papers from 2018

    ... order:  Aubi O, Knappskog PM, Martinez A.  Early stage discovery and validation of pharmacological chaperones for the ... Dye L.  A systematic review of cognitive functioning in early treated adults with phenylketonuria.   Orphanet J Rare Dis2018 Aug ...

  2. Cognitive profile and mental health in Phenylketonuria

    ... to have a devastating effect on intellectual development early in life resulting in an IQ of <30-40, severe behavior problems and severe ... escape from the severe mental delay in development when not treated 2 – the exact number of these patients is not accurately known, as ...

  3. SSIEM Congres report

    ... Neurological and neurocognitive deficits in adults with early treated PKU Dietary control should continue into adulthood according to Dr ...

  4. From basic knowledge to daily management

    ... Anita MacDonald 3 , contradicts the long-held theory that early introduction of bitter-tasting Phe-free L-amino acids altered food ... adult patients wishing to liberalize their diet. Early treated PKU (ETPKU) patients could have an increased risk of neurodegenerative ...

  5. Perspective interview - Niels Gregersen

    ... His comments were made against a background of concern that early hopes that a better characterization of genotype would lead to full ... straight away, how serious it is and how it should be treated. But it’s turned out to be wrong. I think that the fatty-acid ...

  6. XXV ESPKU Conference

    ... sponsor for the organisation.   Untreated and late-treated PKU patients experience partial symptom relief from treatment Dr ... Poland) discussed Phe neurotoxicity present even in early and continuously treated PKU patients (below 400 µmol/l). These patients ...

  7. Perspective interview - Maria Gizewska

    ... and right now we have about 3000 known patients treated for PKU. We have 8 centers involved in screening and treatment of PKU ... significantly influence the awareness of the importance of early screening, good treatment and lifelong follow-up. The second thing that ...

  8. Maternal PKU: who to treat and how to treat

    ... PKU and looks at who to treat and how they should be treated. He reviews the research into birth defects and effect on offspring’s ... on diet and the possible implications of poor control in the early stages of pregnancy. ‘Emergency’ treatment after conception and other ...

  9. Perspective interview - Harvey Levy (PKU Heroes)

    ... the case that, sometimes, infants are investigated and even treated unnecessarily. This is unfortunate, but I think that as we go along ... of people with PKU and why, in the absence of effective early treatment, there is brain damage from those particular metabolites. We ...

  10. Perspective interview - Francjan van Spronsen

    ... they develop mental retardation, or if they are screened and treated from early in life to adulthood, the brain of the PKU patient remains a “black ...

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