Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
scientific article published on 18 April 2016
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author: Elżbieta Ciara, Dariusz Rokicki, Agnieszka Karkucinska-Wieckowska, Dorota Piekutowska-Abramczuk, Johannes A Mayr, Joanna Trubicka, Maciej Pronicki, Maria Giżewska, Małgorzata Krajewska-Walasek, Janusz Ksiazyk, Rafał Płoski, Ewa Pronicka, Paulina Halat-Wolska
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