Enzymatic Testing Sensitivity, Variability and Practical Diagnostic Algorithm for Pyruvate Dehydrogenase Complex (PDC) Deficiency

Pyruvate dehydrogenase complex (PDC) deficiency is a major cause of primary lactic acidemia in children. Prompt and correct diagnosis of PDC deficiency and differentiating between specific vs multiple, or secondary deficiencies has important implications for clinical management and therapeutic inter...

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Vydáno v:Mol Genet Metab
Hlavní autoři: Shin, Ha Kyung, Grahame, George, McCandless, Shawn E., Kerr, Douglas S., Bedoyan, Jirair K.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5722699/
https://ncbi.nlm.nih.gov/pubmed/28918066
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.09.001
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