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TranscriptomicsCommon gene expression profile in the mitochondrial syndrome of coenzyme Q deficiency
Coenzyme Q10 deficiency syndrome includes a clinically heterogeneous group of mitochondrial diseases characterized by low content of CoQ10 in tissues. The only currently available treatment is supplementation with CoQ10, which improves the clinical phenotype in some patients but does not reverse est...
ORGANISM(S): Homo sapiens 
2013-04-05 | E-GEOD-33769 | biostudies-arrayexpress
TranscriptomicsGene expression in the mitochondrial syndrome of coenzyme Q deficiency
Coenzyme Q10 deficiency syndrome includes a clinically heterogeneous group of mitochondrial diseases characterized by low content of CoQ10 in tissues. The only currently available treatment is supplementation with CoQ10, which improves the clinical phenotype in some patients but does not reverse est...
ORGANISM(S): Homo sapiens 
2013-04-05 | E-GEOD-33940 | biostudies-arrayexpress
UnknownMetabolic shift underlies recovery in reversible infantile respiratory chain deficiency
Not available
S-SCDT-EMBOJ-2020-105364-T | biostudies-other
GenomicNAMDC Patient Registry and Biorepository

Mitochondrial diseases are caused by dysfunction of the mitochondria, which are specialized compartments that are present in every cell of the body except red blood cells. Mitochondria generate more than 90% of the energy that the body needs to sustain life and support growth. When they fail, les...

phs001538 | dbGaP
UnknownComprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease
Not available
S-SCDT-10_1038-S44321-026-00497-3 | biostudies-other
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