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  1. Perspective Interview - Nenad Blau (Introduction)

    ... PKU? 6. What is a typical treatment regimen with BH4 cofactor? 7. Do all patients respond to BH4 cofactor treatment? 8. Are there any side effects to BH4 cofactor ...

  2. Perspective interview - Niels Gregersen

    ... that would allow us to predict a patient’s suitability for cofactor therapy. Prof Gregersen: ‘With PKU you can read the responsiveness for the cofactor and for those who respond well to cofactor treatment. I think here you ...

  3. Perspective interview - Ania Muntau (PKU treatment in children aged under 4)

    ... future? 5. What are the potential advantages of BH4 cofactor treatment? 6. Are there any safety concerns of BH4 cofactor treatment in young children? 7. How do you see PKU treatment of ...

  4. Frequently Asked Questions about PKU

    ... diet. A minority of patients can be treated with the PAH cofactor, tetrahydrobiopterin ( BH4 ), which enhances PAH residual ... Tetrahydrobiopterin ( BH4 , sapropterin) is the natural cofactor of phenylalanine hydroxylase ( PAH ), the enzyme that is defective ...

  5. e-book: Practical guidelines for the introduction of sapropterin into the management of phenylketonuria - Manual for healthcare professionals

    ...  occurring 6R- tetrahydrobiopterin ( BH4 ),  a  cofactor  of  the  hydroxylase  enzymes  for phenylalanine, tyrosine, ...

  6. Differential diagnosis of PKU and BH4 deficiency

    ... of the enzyme phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4). 1 The diagnosis of BH4 deficiencies is ...

  7. Perspective interview - Friedrich Trefz (PKU treatment in adults)

    ... are eligible for BH4 treatment? 5. How does BH4 cofactor benefit adult patients? 6. Are there any special populations ...

  8. B12 deficiency may harm brain

    ... Dr John Walter reported that B12 deficiency may be a cofactor in the development of severe neurological disease reported in a small ...

  9. 2nd European Phenylketonuria Group (EPG) Symposium - Advances and Challenges in PKU

    ... pharmacological approaches, such as enzyme substitution and cofactor administration. The importance of patient management will also be ...

  10. Perspective interview - Aurora Martinez

    ... known small molecule chaperones is the naturally occurring cofactor BH4 . Exogenous BH4 , is now licensed as sapropterin for use as ...

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