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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Bibliografische gegevens
Gepubliceerd in:Mol Genet Metab Rep
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2016
Onderwerpen:
Research Paper
Online toegang: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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