Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Authors: Elżbieta Ciara; Dariusz Rokicki; Paulina Halat; Agnieszka Karkucińska-Więckowska; Dorota Piekutowska-Abramczuk; Isabelle Maystadt; Joanna Trubicka; Tamara Szymańska-Dębińska; Maciej Pronicki; Magdalena Pajdowska; M. Dudzińska; Maria Giżewska; Małgorzata Krajewska-Walasek; Janusz Książyk;
Published in: Mol. Genet. Metab. Rep.
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology
SJR best quartile: Q3