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  1. Differential diagnosis of PKU and BH4 deficiency

    Patients with hyperphenylalaninemia (HPA) are detected through newborn screening for phenylketonuria (PKU). HPA is known to be caused by deficiencies of the enzyme phenylalanine ... forward and should be investigated in all children with HPA. Following a positive newborn screen for HPA, all infants need to be ...

  2. Perspective Interview - Nenad Blau (Introduction)

    ... 1. How does untreated hyperphenylalaninaemia ( HPA ) affect patients? 2. How (and when) is PKU diagnosed? 3. How many ...

  3. Perspective interview - Aurora Martinez

    ... than 700 mutations that are known to cause some form of HPA ' How then, we asked, did this evolve into a hunt for pharmacological ...

  4. 3rd European Phenylketonuria Group (EPG) Symposium - Advances and challenges in PKU

    ... treatment protocols for the management of PKU and HPA . For this reason Serono Symposia International Foundation and the ...

  5. 2014 Annual Multidisciplinary European Phenylketonuria Symposium: PKU a lifetime of challenges

    ... random chemical mutagenesis: PAHenu1 (a model for mild PKU/ HPA ), and PAHenu2 and PAHenu3 (models for classical PKU). PAHenu2 mouse ... genotypes databases.  Amongst the 4181 patients (15,1% HPA , 24,4% mild PKU, 41,3% classic PKU, 19,2% no information) she observed ...

  6. 4th European Phenylketonuria Group Symposium

    ... PKU in Italy. Neonatal screening for hyperphenylalaninemia (HPA) has been compulsory in Italy since 1992 but has been a common practice in ... Registry for PKU patients. The incidence of all types of HPA in Italy is 1 in 3,494 live births with 1:8,681 babies affected by forms of ...

  7. Oral communications

    ... Sapropterin is both safe and efficacious as a treatment for HPA in children under four-years-old, said Prof Serap Sivri 2 , presenting ... might contribute to the intellectual deficiency observed in HPA patients. Ms Schuck presented results from ongoing work to investigate the ...

  8. SSIEM Congres report

    ... has the potential to safely correct hyperphenylalanemia (HPA) according to Dr Christineh Sarkissian from McGill University (Montreal, ... from stu­dies into injectable PEG-PAL as a treatment for HPA, currently undergoing clinical trials, to investigate a less invasive route ...

  9. From basic knowledge to daily management

    ... PAH-enu1 is a model for mild PKU/hyperphenylalanemia (HPA), the other two are models for classical PKU. PAH-enu2, the most widely ...

  10. Workshop sessions

    ... (PKU) patients who do not need any treatment (mild HPA) patients who may be treated with BH4, either alone or in a combination ...

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