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

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Description scientific article published on 18 April 2016
Author/s

author: Janusz Ksiazyk  Joanna Trubicka  Maria Giżewska  Johannes A Mayr  Paulina Halat-Wolska  Małgorzata Krajewska-Walasek  Dariusz Rokicki  Agnieszka Karkucinska-Wieckowska  Maciej Pronicki  Elżbieta Ciara  Ewa Pronicka  Rafał Płoski  Dorota Piekutowska-Abramczuk 

Publication date April 18, 2016
Language English
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