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

    ... Slide-kit OC3: Molecular characterization and genotype/phenotype correlations in BH4- responsive PKU Specialty ...

  2. WS3: The impact of the genotype and the metabolic state on BH4 response, Muntau

    ... (PKU) Slide-kit WS3: The impact of the genotype and the matabolic state on BH4 response, Muntau Specialty ...

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

    ... is dependent on their phenylalanine hydroxylase ( PAH ) genotype. 'Also, even with responsive patients, the levels do not reduce to ... are promising because they are not dependent on a specific genotype and this greatly widens the number of people who may be amenable to ...

  4. Differential diagnosis of PKU and BH4 deficiency

    ... excluded. 6             Since the genotype 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 ...

  5. 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 ...

  6. 5th European Phenylketonuria Group Symposium

    ... recognized 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 ...

  7. Perspective interview - Niels Gregersen

    ... concern that early hopes that a better characterization of genotype would lead to full understanding of the observed phenotype and thence ... are any.’ No quick fix With the relationship between genotype and phenotype clearly not suitable as a simple diagnostic tool, is ...

  8. Perspective interview - Aurora Martinez

    ... on the action of the enzyme; the relationship between genotype and phenotype.' Misfolding holds the key 'We realized that most ... of patients, as it is dependent on the nature of their genotype and the resulting misfolding. There are many patients with misfolding ...

  9. Oral communications

    ... in the PAH enzyme and predict BH4 responsiveness using genotype scoring, explained Ms Sarah Wettstein 1 . This offers a robust ... and genotypes database BIOPKUdb (4181 patients with full genotype) at www.biopku.org . The relative frequencies of mutations, ...

  10. 4th European Phenylketonuria Group Symposium

    ... described how bioinformatics can be used to help correlate genotype with phenotype through the analysis of enzyme kinetics and molecular ... should be improved and more readily available analysing genotype and phenotype is key to future treatment success.     4th ...

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