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  1. Importance of gene modifiers in PKU: what we can learn from other diseases?

    ... (PKU) Slide-kit Importance of gene modifiers in PKU: what we can learn from other diseases? ...

  2. Perspective interview - Niels Gregersen

    ... enzymes or enzyme pathways’ the professor told us. The gene genie ‘But that all changed when the genes for MCAD and the other ... diagnoses. At that time, we thought that when we knew the gene defect then we would also know the disease: we would know the prognosis ...

  3. 1st European Phenylketonuria Group (EPG) Symposium - Advances and challenges in PKU

    ... Thus, new approaches such as enzyme replacement therapy, gene therapy, large neutral amino acids ( LNAA ), and tetrahydrobiopterin ... with tetrahydrobiopterin Enzyme replacement and gene therapy Compliance with the management of PKU Nutritional care ...

  4. 4th European Phenylketonuria Group Symposium

    ... cases by a mutation in the phenylalanine hydroxylase (PAH) gene, there are more than 600 mutations characterised to date. In addition, the ... characterisation of the phenylalanine hydroxylase (PAH) gene mutations which cause misfolding. Where these mutations affect the PAH ...

  5. SSIEM Congres report

    ... markers for oxidative stress and blood Phe levels. Is gene therapy for PKU patients in sight now? Dr Cary Harding of the ... development of safe, effective rAAV-mediated liver-directed gene therapy for PKU and other inborn errors of metabolism. Dr Harding et al ...

  6. Highlights from PKU: Advancing the dream - 2018 NPKUA Conference, July 5-8, Atlanta, GA USA

    ... OR, summarized her recent success using CRISPR/Cas9-mediated gene editing to correct hyperphenylalaninemia in neonatal Pah enu2 mice, ... Medicines reviewed results of AAV-mediated liver-directed gene therapy in the Pah enu2 mouse using their proprietary AAV-HSC ...

  7. 4th European Phenylketonuria Group (EPG) Symposium

    ... by  Søren W. Gersting (Germany)  who explained that PAH gene mutations induce misfolding proteins, whose function is repaired by drugs, ... BH4-responsiveness by molecular characterization of PAH gene mutations causing alternative splicing with misfolding proteins. Mutations ...

  8. Perspective interview - Harvey Levy (PKU Heroes)

    ... that we can more fully understand the relationship that the gene has to the expression of the disorder.’ Understanding mutations ... (different mutations) in the phenylalanine hydroxylase gene which relate to different degrees of PKU. ‘For example, we know that ...

  9. Oral communications

    ... The relative frequencies of mutations, genotypes, affected gene regions and protein domains were calculated. PAH mutations and genotypes ...

  10. Clinical management of phenylketonuria

    ... separate treatments available, including medical therapies, gene, enzyme and cell therapies. Suggestions on how PKU management can be ...

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