{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:27:52Z","timestamp":1787243272346,"version":"build-2736575974"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[1996,1,16]],"date-time":"1996-01-16T00:00:00Z","timestamp":821750400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1996,9]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    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\u2010sensitive NADH\u2010cytochrome\n                    <jats:italic>c<\/jats:italic>\n                    reductase (complexes I and III) with normal succinate cytochrome\n                    <jats:italic>c<\/jats:italic>\n                    reductase (complexes II and III) and cytochrome oxidase (complex IV) activity in cultured skin fibroblasts, indicating a deficient NADH\u2010coenzyme Q reductase (complex I) activity. The patients fell into five categories: severe neonatal lactic acidosis; Leigh disease; cardiomyopathy and cataracts; hepatopathy and tubulopathy; and mild symptoms with lactic acidaemia. Cell lines from 4 out of the 12 patients were susceptible to both galactose and menadione toxicity and 3 of these also displayed low levels of ATP synthesis in digitonin\u2010permeabilized skin fibroblasts from a number of substrates. This study highlights the heterogeneity of complex I deficiency at the clinical and biochemical level.\n                  <\/jats:p>","DOI":"10.1007\/bf01799845","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T12:38:06Z","timestamp":1119357486000},"page":"675-686","source":"Crossref","is-referenced-by-count":55,"title":["NADH\u2010coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings"],"prefix":"10.1002","volume":"19","author":[{"given":"S.","family":"Pitkanen","sequence":"first","affiliation":[{"name":"Departments of Pediatrics and Biochemistry University of Toronto and The Research Institute, Hospital for Sick Children  Toronto Ontario"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Feigenbaum","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Biochemistry University of Toronto and The Research Institute, Hospital for Sick Children  Toronto Ontario"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Laframboise","sequence":"additional","affiliation":[{"name":"M\u00e9decine G\u00e9n\u00e9tique Le Centre Hospitalier de L'Universit\u00e9 Laval  Ste\u2010Foy Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. 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