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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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| Publicado no: | Mol Genet Metab |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | 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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