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

    ... the diet should be continued. Thus, new approaches such as enzyme replacement therapy, gene therapy, large neutral amino acids ( LNAA ), ... amino acids Treatment with tetrahydrobiopterin Enzyme replacement and gene therapy Compliance with the management of ...

  2. Perspective interview - Nicola Longo (PEG-PAL)

    ... on the Phase III clinical study, looking at this novel enzyme substitution therapy. He was speaking at the 2014 Annual ... level we would consider normal in a person without PKU. Enzyme substitution therapies such as PEG-PAL are promising because they ...

  3. 5th European Phenylketonuria Group Symposium 'Advances and Challenges in PKU'

    ... function in PKU Neuropsychological assessment in PKU Enzyme substitution therapy for PKU Development of EU guidelines for ... (UK) 08.30 L4: Clinical trials with the PEG-PAL enzyme substitution Cary O. Harding (USA) 09.00 L5: Novel chemical and ...

  4. 2nd European Phenylketonuria Group (EPG) Symposium - Advances and Challenges in PKU

    ... with regard to new pharmacological approaches, such as enzyme substitution and cofactor administration. The importance of patient ... Clinical trials with the phenylalanine ammonia lyase (PAL) enzyme substitution therapy Nutritional follow-up of PKU patients ...

  5. XXV ESPKU Conference

    ... mass screening and early intervention for newborns.   Enzyme substitution therapy: the future of PKU treatment? In the future, it may be possible to take an enzyme supplement, rather than rely on diet to control PKU. Dr Cary Harding ...

  6. Perspective interview - Aurora Martinez

    ... with the ability to restore some, or all function to an enzyme affected by a gene mutation. These have great potential as therapies for ... understand the effect of the mutations on the action of the enzyme; the relationship between genotype and phenotype.' Misfolding holds ...

  7. Frequently Asked Questions about PKU

    ... and function of the Phenylalanine Hydroxylase ( PAH ) enzyme. This enzyme is responsible for the transformation of phenylalanine ( Phe ) into ...

  8. Differential diagnosis of PKU and BH4 deficiency

    ... (PKU). HPA is known to be caused by deficiencies of the enzyme phenylalanine hydroxylase ( PAH ) or its cofactor ... 3 Mild PAH mutations with a substantial residual enzyme activity are most likely to demonstrate increased activity in the ... a significant relationship between allelic phenotype, enzyme activity and BH4 responsiveness. 8 The statistical and analytic ...

  9. Oral communications

    ... It is possible to quantify the loss of stability in the PAH enzyme and predict BH4 responsiveness using genotype scoring, explained Ms ... prediction tools. These scores were correlated with residual enzyme activity, patients’ phenotype, and BH4 response. Ms Wettstein was ...

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

    ... drug development for PKU two main streams are followed; the enzyme replacement therapy and small molecule pharma-chaperons. Professor  ... (pegylated phenylalanine ammonia lyase) is a bacterial enzyme degrading phenylalanine to the low toxic compound cinnamic acid and ...

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