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Article

NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings.

Journal of inherited metabolic disease - 1 Jan 1996

Pitkänen S, Feigenbaum A, Laframboise R, Robinson B H

Abstract excerpt

Twelve patient cell lines with biochemically proven complex I deficiency were compared for clinical presentation and outcome, together with their sensitivity to galactose and menadione toxicity. Each patient had elevated lactate to pyruvate ratios demonstrable in fibroblast cultures. Each patient also had decreased rotenone-sensitive NADH-cytochrome c reductase (complexes I and III) with normal succinate...

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PMID: 8892026
DOI: 10.1007/BF01799845

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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