Measurement of ATP production in mitochondrial disorders

Summary Mitochondrial diseases are a heterogeneous group of disorders caused by mutations in both nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Mitochondrial disease leads to impaired respiratory chain function and reduced ATP production. The aim of this study was to compare disturbances in mito...

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Veröffentlicht in:	Journal of inherited metabolic disease 2006-02, Vol.29 (1), p.86-91
Hauptverfasser:	Shepherd, R. K., Checcarelli, N., Naini, A., De Vivo, D. C., DiMauro, S., Sue, C. M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Triphosphate - biosynthesis Adenosine Triphosphate - metabolism Adolescent Adult Aged Biological and medical sciences Child Child, Preschool Errors of metabolism Female Fibroblasts - metabolism Humans Infant Male Medical genetics Medical sciences MELAS Syndrome - genetics Metabolic diseases Middle Aged Miscellaneous hereditary metabolic disorders Mitochondrial Diseases - diagnosis Mitochondrial Diseases - genetics Mitochondrial Diseases - metabolism Mutation
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