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Here we present a patient with pyruvate carboxylase deficiency and nemaline rods detected on muscle biopsy. The nemaline rods may be due to cellular energy shortage and altered energy metabolism in pyruvate carboxylase deficiency, similar to that in the previously reported patients. The mechanism of nemaline rod formation may be associated with the role of pyruvate carboxylase in cellular energy pathways.<\/jats:p>","DOI":"10.1177\/0883073812458710","type":"journal-article","created":{"date-parts":[[2012,9,11]],"date-time":"2012-09-11T02:00:43Z","timestamp":1347328843000},"page":"1505-1508","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy"],"prefix":"10.1177","volume":"28","author":[{"given":"Ozlem","family":"Unal","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Metabolism and Nutrition, Fellow of Metabolism, Hacettepe University, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diclehan","family":"Orhan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pathology, Hacettepe University, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elsebet","family":"Ostergaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aysegul","family":"Tokatli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolism and Nutrition, Hacettepe University, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Dursun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolism and Nutrition, Fellow of Metabolism, Hacettepe University, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burcu","family":"Ozturk-Hismi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolism and Nutrition, Fellow of Metabolism, Hacettepe University, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Turgay","family":"Coskun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolism and Nutrition, Fellow of Metabolism, Hacettepe University, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flemming","family":"Wibrand","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. 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