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

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

Pyruvate dehydrogenase complex (PDHc) defect is a well-known cause of mitochondrial disorders (MD) with at least six responsible genes (PDHA1, PDHB, DLAT, DLD, PDHX, PDP1). The aim of this work was to assess the diagnostic value of biochemical methods in recognition of PDHc defect in Polish patients...

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Bibliographic Details
Main Authors: E. Ciara, D. Rokicki, P. Halat, A. Karkucińska-Więckowska, D. Piekutowska-Abramczuk, J. Mayr, J. Trubicka, T. Szymańska-Dębińska, M. Pronicki, M. Pajdowska, M. Dudzińska, M. Giżewska, M. Krajewska-Walasek, J. Książyk, W. Sperl, R. Płoski, E. Pronicka
Format: Article
Language:English
Published: Elsevier 2016-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Pyruvate dehydrogenase complex deficiency
PDHc
PDHA1
DLD
Novel pathogenic variants
Whole-exome sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916300167

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