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  1. Perspective interview - Harvey Levy (newborn screening)

    ... Prof Harvey Levy shares his hopes for the future of newborn screening Prof Harvey Levy1 of the Boston Children’s Hospital and Harvard ... associated with the development and advancement of newborn screening. Among his many awards he is a past recipient of both the Robert ...

  2. SSIEM Annual Symposium 2011

    ... reflected on the ethical issues raised by deve­lopments in screening techniques. From blood to screening result The first plenary session of the SSIEM symposium was ...

  3. Perspective interview - Harvey Levy (PKU Heroes)

    ... Levy talks about his PKU Heroes and the future of newborn screening Prof Harvey Levy of Harvard Medical School, Boston (USA) gave the ... to mention one key advocate of the expansion of newborn screening for inherited metabolic disorders, that person being Prof Levy ...

  4. Perspective interview - Maria Gizewska

    ... patients treated for PKU. We have 8 centers involved in screening and treatment of PKU patients. They are treated by pediatricians ... equal for all patients, but this is not true. We know that screening, treatment and follow-up of patients varies between countries, even ...

  5. SSIEM Congres report

    ... high protein formula was found in the child’s bag. Screening reveals psychiatric distress in PKU Work by Dr Barbara Burton et ... a poster presentation, suggests that routine mental health screening should become part of routine clinical appointments for PKU patients. ...

  6. 4th European Phenylketonuria Group Symposium

    ... the delegates with an overview of PKU in Italy. Neonatal screening for hyperphenylalaninemia (HPA) has been compulsory in Italy since ... longer than this; in the Lombardy region of Northern Italy, screening began in 1977. Since 2010 there has been a National Registry for PKU ...

  7. Cognitive profile and mental health in Phenylketonuria

    ... and should be – treated as soon as possible after neonatal screening. 3 Studies show that continuously treated patients (from neonatal screening onwards) have a normal IQ (within the range 80–120), but always ...

  8. Differential diagnosis of PKU and BH4 deficiency

    ... hyperphenylalaninemia ( HPA ) are detected through newborn screening for phenylketonuria (PKU). HPA is known to be caused by ... + *may be normal or subnormal in the newborn screening PKU, phenylketonuria; GTPCH, GTP cyclohydrolase I; PTPS, ...

  9. Oral communications

    ... work. Microcephaly and hyperphenylalaninemias Screening for maternal PKU and mild hyperphenylalaninemia (MHP) is essential if ... of the disease but relatively late adoption of national screening. BH4 responsiveness Prof Uçar Kalkan6 reported the ...

  10. 2014 Annual Multidisciplinary European Phenylketonuria Symposium: PKU a lifetime of challenges

    ... still 4 of 11 countries surveyed that were without newborn screening and only 4 of 11 countries had a dietitian working within their ... not every patient is BH4 -responsiv. After the primary screening two new compounds showed to increase the amount of PAH protein ...

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