Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing
Elżbieta Ciara(Children's Memorial Health Institute), Ewa Pronicka(Children's Memorial Health Institute), Małgorzata Krajewska‐Walasek(Children's Memorial Health Institute), Joanna Trubicka(Children's Memorial Health Institute), Paulina Halat(Children's Memorial Health Institute), Rafał Płoski(Medical University of Warsaw), Janusz Książyk(Children's Memorial Health Institute), Wolfgang Sperl(Paracelsus Medical University), Tamara Szymańska-Dębińska(Children's Memorial Health Institute), Dorota Piekutowska‐Abramczuk(Children's Memorial Health Institute), Dariusz Rokicki(Children's Memorial Health Institute), Johannes A. Mayr(Paracelsus Medical University), Magdalena Dudzińska(Centrum Onkologii), Magdalena Pajdowska(Children's Memorial Health Institute), Maria Giżewska(Pomeranian Medical University), Agnieszka Karkucińska‐Więckowska(Children's Memorial Health Institute), Maciej Pronicki(Children's Memorial Health Institute)
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