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  1. Differential diagnosis of PKU and BH4 deficiency

    ... hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4). 1 The diagnosis of BH4 deficiencies is straight forward and should be investigated in all children ...

  2. Frequently Asked Questions about PKU

    ... What is the importance of tetrahydrobiopterin (BH4) in PKU? What is the mode of BH4 action in PKU patients? Is BH4 deficiency the same disease as PKU? ...

  3. Optimizing PKU Treatment by Assessment of Sapropterin (BH4) Responsiveness

    ... PKU management Impact of different factors on BH4 responsiveness results Key considerations of BH4 responsiveness testing and implications for clinical practice ...

  4. BH4 in children under 4 years

    ... PKU Academy Video BH4 in children under 4 years of age lecture Harvey L. Levy, USA Video of BH4 in children under 4 years of age lecture Harvey L. Levy, USA ...

  5. Perspective Interview - Nenad Blau (Introduction)

    ... available for PKU in children and adults? 5. What is BH4 co-factor and how does it treat the symptoms of PKU? 6. What is a typical treatment regimen with BH4 cofactor? 7. Do all patients respond to BH4 cofactor treatment? ...

  6. Perspective interview - Søren Gersting

    ... Here, his initial research focus was the mechanism of BH4 interaction with the PAH protein. He has published a number of papers ... different factors, such as stress, metabolic state and BH4 supply, in different patients with different genotypes and mutations. The ...

  7. Perspective interview - Harvey L. Levy (BH4 in children)

    BH4 in children under 4 years Video BH4 in children under 4 years Harvey L. Levy, USA Specialty ...

  8. 4th European Phenylketonuria Group (EPG) Symposium

    ... treatment options, like sapropterin dihydrochloride (also BH4 ), on monoamine neurotransmitters metabolism in the brain of PKU patients. ... PKU CNS neurotransmitters in PKU Management of BH4 deficiency Social and financial management of PKU Amino acid ...

  9. BH4 responsiveness: Ege University experience

    ... Phenylketonuria (PKU) Slide-kit BH4 responsiveness: Ege University experience Specialty area(s) ...

  10. WS1: Laboratory diagnosis of PKU and BH4 deficiencies, Blau

    ... Slide-kit WS1: Laboratory diagnosis of PKU and BH4 deficiencies, Blau Specialty area(s) Endocrinology and ...

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