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  1. Perspective interview - Niels Gregersen

    ... first seen for the MCAD defect where there is a prevalent mutation (80% of the patients are homozygous for it), but despite having the ... lead to new treatments, particularly when we are looking at missense mutations, which can give rise to the protein, either with a distorted ...

  2. Perspective interview - Aurora Martinez

    ... some, or all function to an enzyme affected by a gene mutation. These have great potential as therapies for PKU and other IEMs, caused by missense mutations. Prof Martinez began working with phenylalanine ...

  3. From basic knowledge to daily management

    ... PKU. PAH-enu2, the most widely used model, carries a missense mutation that completely inactivates the PAH. Recently, heterozygous ...

  4. 2014 Annual Multidisciplinary European Phenylketonuria Symposium: PKU a lifetime of challenges

    ... PAHenu3 (models for classical PKU). PAHenu2 mouse carries a missense mutation that completely inactivates the PAH enzyme and is the most widely ...