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  1. OC3: Molecular characterization and genotype/phenotype correlations in BH4- responsive PKU

    ... OC3: Molecular characterization and genotype/phenotype correlations in BH4- responsive PKU Specialty area(s) ...

  2. Differential diagnosis of PKU and BH4 deficiency

    ... determines the activity of PAH and thus the metabolic phenotype, there is growing evidence of genotype–phenotype correlation. More than 1,000 PAH variants have been reported ...

  3. 5th European Phenylketonuria Group Symposium

    ... and neutralized by antibodies. Linking genotype to phenotype In vitro studies of PAH structure might lead to better understanding of the link between genotype and phenotype, according to Prof Ania Muntau4. Because phenylalanine hydroxylase ...

  4. Perspective interview - Niels Gregersen

    ... of genotype would lead to full understanding of the observed phenotype and thence to a plethora of new treatments might have been premature. ... No quick fix With the relationship between genotype and phenotype clearly not suitable as a simple diagnostic tool, is there, we ...

  5. 4th European Phenylketonuria Group Symposium

    ... mutations characterised to date. In addition, the clinical phenotype is affected by other factors: the amount of dietary Phe, the degree ... bioinformatics can be used to help correlate genotype with phenotype through the analysis of enzyme kinetics and molecular structure. This ...

  6. Oral communications

    ... were correlated with residual enzyme activity, patients’ phenotype, and BH4 response. Ms Wettstein was awarded the prize for best ...

  7. Perspective interview - Aurora Martinez

    ... action of the enzyme; the relationship between genotype and phenotype.' Misfolding holds the key 'We realized that most mutations ...

  8. 5th European Phenylketonuria Group Symposium 'Advances and Challenges in PKU'

    ... said  Ania Muntau (Germany) , involving the disease’s phenotype and ultimately therapeutic approach. In compound heterozygote ... by in vitro cellular studies and support from the genotype-phenotype prediction model when facing PKU patients. Several oral ...

  9. 4th European Phenylketonuria Group (EPG) Symposium

    ... be more suitable and easy to get; analyzing genotype and phenotype is key.  Anita MacDonald (UK)  and  Margreet van Rijn (The ...

  10. 2nd European Phenylketonuria Group (EPG) Symposium - Advances and Challenges in PKU

    ... (PKU) and clinical trials Nicola Longo, USA Genotype -phenotype correlation in PKU and the contribution of mutation molecular ...

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