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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6835216/
https://www.ncbi.nlm.nih.gov/pubmed/31658717
http://dx.doi.org/10.3390/metabo9100220

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