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mitochondrial complex i deficiency
(compound)
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Genetic Markers
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Curated Studies
Most Correlated Studies
OMIM - Congenital disorder
OMIM - Metabolic disease
Mouse Phenotypes - Metabolic disease
Skin fibroblasts of patients with defective complex I (CI) oxidative phosphorylation disease
Fibroblasts of complex I deficient patients treated with AICAR, chloramphenicol, or resveratrol
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Literature
Most Relevant Literature
Intrahepatic cholestasis due to mitochondrial respiratory chain complex I deficiency in a Chinese bo…
Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene].
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficie…
Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency.
Mitochondrial complex I deficiency of nuclear origin I. Structural genes.
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Clinical Trials
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Impact of Iron Deficiency and Its Correction on Mitochondrial Metabolism of the Cardiomyocyte (MitoC…
Gastrointestinal Dysfunction in Children Affected With Mitochondrial Disorders
GDF-15 as a Biomarker for Mitochondrial Disease
Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease…
NiaMIT Continuation With Early-stage Mitochondrial Myopathy Patients
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