Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease

Primary mitochondrial disease (PMD) is a large group of genetic disorders directly affecting mitochondrial function. Although next generation sequencing technologies have revolutionized the diagnosis of these disorders, biochemical tests remain essential and functional confirmation of the critical g...

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發表在:Metabolites
Main Authors: Bird, Matthew J, Adant, Isabelle, Windmolders, Petra, Vander Elst, Ingrid, Felgueira, Catarina, Altassan, Ruqaiah, Gruenert, Sarah C, Ghesquière, Bart, Witters, Peter, Cassiman, David, Vermeersch, Pieter
格式: Artigo
語言:Inglês
出版: MDPI 2019
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6835216/
https://ncbi.nlm.nih.gov/pubmed/31658717
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/metabo9100220
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