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  1. Oral communications

    ... beyond its effect through lowering Phe concentrations. Hyperphenylalaninemia causes cholinergic alterations in rat brain Phe ... Screening for maternal PKU and mild hyperphenylalaninemia (MHP) is essential if the offspring has early-onset ...

  2. Differential diagnosis of PKU and BH4 deficiency

    Patients with hyperphenylalaninemia (HPA) are detected through newborn screening for ... It is positive in all BH4-deficient patients and in certain mild PKU patients but cannot always differentiate between PKU responders and BH4-deficient patients. 3 Mild PAH mutations with a substantial residual enzyme activity are most ...

  3. 2nd European Phenylketonuria Group (EPG) Symposium - Advances and Challenges in PKU

    ... Importance of MRS in the treatment of PKU Management of mild hyperphenylalaninemia Clinical trials with the phenylalanine ammonia lyase ...

  4. 4th European Phenylketonuria Group Symposium

    ... with an overview of PKU in Italy. Neonatal screening for hyperphenylalaninemia (HPA) has been compulsory in Italy since 1992 but has ... numbers of newborns, 1:17,362 are diagnosed with Type II (mild PKU) and 1:5,907 with Type III (mild HPA). The Clinical Department of ...

  5. Perspective interview - Harvey Levy (PKU Heroes)

    ... are still other mutations that are associated with a form of hyperphenylalaninemia, an elevation of blood Phe that we may not even term PKU but we call mild hyperphenylalaninemia, and which may not need to be treated. ‘So by ...

  6. Recommended reading – key published papers from 2018 so far

    ... in the unaffected population. Adverse events were mostly mild or moderate in intensity and resolved without needing to interrupt or ... was compared in children with PKU with those with mild hyperphenylalaninemia (MHP), on an unrestricted diet. Compared with MHP ...