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Article

Phenotype variability in 130 adult patients with respiratory chain disorders.

Journal of inherited metabolic disease - 1 Oct 2001

Finsterer J, Jarius C, Eichberger H

Abstract excerpt

Despite continuously improving diagnostic facilities, respiratory chain disorders (RCDs) are easily overlooked or misdiagnosed. We thus studied phenotype variability and the diagnostic potential of clinical and laboratory investigations in patients with RCD. We retrospectively evaluated clinical and laboratory investigations in 130 patients with RCD: 63 women and 67 men, aged 17-87 years, diagnosed between...

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PMID: 11757584
DOI: 10.1023/a:1012415810881

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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