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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2019
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Article
Online adgang: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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