{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T17:27:19Z","timestamp":1787160439390,"version":"build-2736575974"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[1995,11,10]],"date-time":"1995-11-10T00:00:00Z","timestamp":815961600000},"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":[[1996,5]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    We report 8 cases of severe cytochrome\n                    <jats:italic>c<\/jats:italic>\n                    oxidase deficiency with onset in the neonatal period. Clinical symptoms were heterogeneous: antenatal cerebral malformations, neurological distress with ketoacidosis, severe myopathy, or isolated respiratory control failure. Lactic acid was elevated in blood and\/or CSF in 7 cases. Muscle biopsy (7 patients), liver biopsy (4 patients), and cultured skin fibroblasts (7 patients) were used to assess the cytochrome\n                    <jats:italic>c<\/jats:italic>\n                    oxidase deficiency. Among the patients, the enzymatic defect differed in the level of residual activity, expression in different tissues and subunit composition in muscle (as analysed by immunohistochemistry). Southern blot analysis of the mitochondrial DNA was normal in 7 patients. The heterogeneity of cytochrome\n                    <jats:italic>c<\/jats:italic>\n                    oxidase deficiency was therefore demonstrated by these clinical presentations and by the biochemical assessment of the enzyme defect. This reflects, most probably, the diverse nature of the causal mutations.\n                  <\/jats:p>","DOI":"10.1007\/bf01799256","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T12:33:12Z","timestamp":1119357192000},"page":"286-295","source":"Crossref","is-referenced-by-count":14,"title":["Clinical and molecular heterogeneity of cytochrome\n                    <i>c<\/i>\n                    oxidase deficiency in the newborn"],"prefix":"10.1002","volume":"19","author":[{"given":"A.","family":"Lombes","sequence":"first","affiliation":[{"name":"D\u00e9veloppement, Pathologie R\u00e9g\u00e9neration du syst\u00e8me neuromusculaire INSERM U 153  CNRS UA 614 Paris"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. B.","family":"Romero","sequence":"additional","affiliation":[{"name":"Laboratoire de Pathologie Musculaire H\u00f4pital Robert Debr\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Touati","sequence":"additional","affiliation":[{"name":"Centre d'Investigation Clinique H\u00f4pital Robert Debr\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Frachon","sequence":"additional","affiliation":[{"name":"D\u00e9veloppement, Pathologie R\u00e9g\u00e9neration du syst\u00e8me neuromusculaire INSERM U 153  CNRS UA 614 Paris"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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