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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發表在:Mol Genet Metab Rep
Main Authors: Ciara, E., Rokicki, D., Halat, P., Karkucińska-Więckowska, A., Piekutowska-Abramczuk, D., Mayr, J., Trubicka, J., Szymańska-Dębińska, T., Pronicki, M., Pajdowska, M., Dudzińska, M., Giżewska, M., Krajewska-Walasek, M., Książyk, J., Sperl, W., Płoski, R., Pronicka, E.
格式: Artigo
語言:Inglês
出版: Elsevier 2016
主題:
Research Paper
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4840431/
https://ncbi.nlm.nih.gov/pubmed/27144126
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.03.004
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