Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing

  title={Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing},
  author={Elżbieta Ciara and Dariusz Rokicki and Paulina Halat and Agnieszka Karkucinska-Wieckowska and Dorota Piekutowska-Abramczuk and Johannes A. Mayr and Joanna Trubicka and Tamara Szymańska-Dębińska and Maciej Pronicki and Magdalena Pajdowska and Magdalena Dudzińska and Maria Giżewska and Małgorzata Krajewska-Walasek and Janusz Książyk and Wolfgang Sperl and Rafał Płoski and Ewa Pronicka},
  journal={Molecular Genetics and Metabolism Reports},
  pages={70 - 76}

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