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  1. 3rd European Phenylketonuria Group (EPG) Symposium - Advances and challenges in PKU

    ... to escape from mental retardation. Dietary restriction of phenylalanine remains the mainstay of treatment but PKU is an active area of ... Carmen Regla Vargas, Brazil Progress in phenylalanine hydroxylase and chaperone research Aurora Martinez, Norway Current trials for ...

  2. 5th European Phenylketonuria Group Symposium

    ... and phenotype, according to Prof Ania Muntau4. Because phenylalanine hydroxylase (PAH) is a homotetramer, a dimer of dimers, it is possible that in ...

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

    ... in the diagnosis, treatment and follow-up of patients with phenylalanine hydroxylase deficiency”. Dr. Bélanger Quintana has been working in the field ...

  4. PKU Academy Advanced Course - Pharmacological treatment

    ... in the diagnosis, treatment and follow-up of patients with phenylalanine hydroxylase deficiency”. Dr Bélanger Quintana has been working in the field ...

  5. Highlights from PKU: Advancing the dream - 2018 NPKUA Conference, July 5-8, Atlanta, GA USA

    ... a probiotic, Lactobacillus acidophilus, that expresses phenylalanine ammonia lyase (PAL). Her proposal is to provide this probiotic ... outstanding work using crystallography of the phenylalanine hydroxylase (PAH) complex to explore the PAH enzymatic mechanism. Her group ...

  6. 2nd European Phenylketonuria Group (EPG) Symposium - Advances and Challenges in PKU

    ... of mild hyperphenylalaninemia Clinical trials with the phenylalanine ammonia lyase (PAL) enzyme substitution therapy Nutritional ...   Direct in-well activity measurement of phenylalanine hydroxylase reveals positive cooperativity for the binding of BH4 Michael ...

  7. Oral communications

    ... has been suggested that BH4, also a cofactor for Tyr and Trp hydroxylase, could also have a role in improving brain neurotransmitter ... (İzmir, Turkey.) BH4 administration in HPA increased phenylalanine tolerance in BH4 responsive patients.   1 - Ms Sarah ...

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

    ... of response to therapy, and achievement of targeted blood phenylalanine levels, also considering the social and economical impact of this ... chaperone tetrahydrobiopterin stabilizing phenylalanine hydroxylase Marta K. Danecka (Germany) 11.30 OC2: Man made disease: effects ...

  9. Recommended reading – key published papers from 2018 so far

    ... trial designed to evaluate the effects of treatment on blood phenylalanine levels and neuropsychiatric outcomes in adults with PKU are ... genotyping seven pathogenic SNPs in the phenylalanine hydroxylase gene in 23 families. The ARMS-LFA concordance rate of the ...

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