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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Metabolites
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: MDPI 2019
विषय:
ऑनलाइन पहुंच: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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