{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T15:09:26Z","timestamp":1794409766040,"version":"4.9.0"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2011,11,15]],"date-time":"2011-11-15T00:00:00Z","timestamp":1321315200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We assessed hepatic mitochondrial function by <jats:sup>13<\/jats:sup>C-methionine-breath-test in 16 Friedreich ataxia patients and matched healthy controls.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Patients exhaled significantly smaller amounts of <jats:sup>13<\/jats:sup>CO<jats:sub>2<\/jats:sub> over 90 minutes. Maximal exhaled percentage dose of <jats:sup>13<\/jats:sup>CO<jats:sub>2<\/jats:sub> recovery was reduced compared to controls.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>\n              <jats:sup>13<\/jats:sup>C-methionine-breath-test indicates subclinical hepatic mitochondrial dysfunction in Friedreich ataxia but did not correlate with GAA repeat lengths, disease duration or disease severity.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2377-11-145","type":"journal-article","created":{"date-parts":[[2011,11,16]],"date-time":"2011-11-16T13:48:41Z","timestamp":1321451321000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Hepatic mitochondrial dysfunction in Friedreich Ataxia"],"prefix":"10.1186","volume":"11","author":[{"given":"Sven H","family":"St\u00fcwe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Goetze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larissa","family":"Arning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Banasch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang E","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Saft","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,11,15]]},"reference":[{"issue":"5254","key":"544_CR1","doi-asserted-by":"publisher","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","volume":"271","author":"V Campuzano","year":"1996","unstructured":"Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, et al: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. 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