Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease

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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Bibliographic Details
Main Authors: Matthew J Bird, Isabelle Adant, Petra Windmolders, Ingrid Vander Elst, Catarina Felgueira, Ruqaiah Altassan, Sarah C Gruenert, Bart Ghesquière, Peter Witters, David Cassiman, Pieter Vermeersch
Format: Article
Language:English
Published: MDPI AG 2019-10-01
Series:Metabolites
Subjects:
primary mitochondrial disease (pmd)
enzymology
oxygraphy
oxidative phosphorylation (oxphos)
respiration
diagnostics
Online Access:https://www.mdpi.com/2218-1989/9/10/220

Internet

https://www.mdpi.com/2218-1989/9/10/220

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