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  1. Perspective interview - Patrícia Fernanda Schuck

    Cholinergic alterations are caused by hyperphenylalaninemia in rat brain Video Cholinergic alterations are caused by hyperphenylalaninemia in rat brain Patrícia Fernanda Schuck, Brazil ...

  2. 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 ...

  3. Differential diagnosis of PKU and BH4 deficiency

    Patients with hyperphenylalaninemia (HPA) are detected through newborn screening for ... 2 (Table 1). Table 1: Laboratory diagnosis of hyperphenylalaninemia variants   PKU GTPCH ... TB, Vilboux T, et al. Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. Am J Hum Genet ...

  4. Interviews with expert presenters

    ... interview   Cholinergic alterations are caused by hyperphenylalaninemia in rat brain View video interview   ...

  5. Recommended reading – key published papers from 2018

    ... is acceptance of the role of oxidative stress in PKU and hyperphenylalaninemia. This paper reports on validated brain-specific lipid ... and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age. Orphanet J Rare Dis ...

  6. 2nd European Phenylketonuria Group (EPG) Symposium - Advances and Challenges in PKU

    ... of MRS in the treatment of PKU Management of mild hyperphenylalaninemia Clinical trials with the phenylalanine ammonia lyase ... Registry: A long term observational study of patients with hyperphenylalaninemia treated with sapropterin dihydrochloride François ...

  7. Perspective interview - Maria Gizewska

    ... but she also takes care of a number with milder forms of hyperphenylalaninemia, patients with BH4 deficiency , maternal PKU, and ...

  8. 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 ...

  9. 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 ...

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

    ... 15.15 OC4 Cholinergic alterations are caused by hyperphenylalaninemia in rat brain Patrícia Fernanda Schuck, Brazil 15.30 OC5 Three girls with microcephaly and hyperphenylalaninemia  Serap Sivri, Turkey 15.45 BH4 responsiveness: ...

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