{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T18:30:40Z","timestamp":1788373840881,"version":"build-2803163510"},"reference-count":55,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2013,6,5]],"date-time":"2013-06-05T00:00:00Z","timestamp":1370390400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2014,6]]},"DOI":"10.1007\/s00467-013-2482-z","type":"journal-article","created":{"date-parts":[[2013,6,4]],"date-time":"2013-06-04T08:46:44Z","timestamp":1370335604000},"page":"961-969","source":"Crossref","is-referenced-by-count":37,"title":["Primary coenzyme Q10 (CoQ10) deficiencies and related nephropathies"],"prefix":"10.1007","volume":"29","author":[{"given":"Fatih","family":"Ozaltin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,6,5]]},"reference":[{"key":"2482_CR1","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1038\/426127a","volume":"426","author":"K Henze","year":"2003","unstructured":"Henze K, Martin W (2003) Evolutionary biology: essence of mitochondria. Nature 426:127\u2013128","journal-title":"Nature"},{"key":"2482_CR2","doi-asserted-by":"crossref","first-page":"R551","DOI":"10.1016\/j.cub.2006.06.054","volume":"16","author":"HM McBride","year":"2006","unstructured":"McBride HM, Neuspiel M, Wasiak S (2006) Mitochondria: more than just a powerhouse. Curr Biol 16:R551\u2013R560","journal-title":"Curr Biol"},{"key":"2482_CR3","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1002\/ajmg.1426","volume":"106","author":"PF Chinnery","year":"2001","unstructured":"Chinnery PF, Turnbull DM (2001) Epidemiology and treatment of mitochondrial disorders. Am J Med Genet 106:94\u2013101","journal-title":"Am J Med Genet"},{"key":"2482_CR4","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1146\/annurev.bi.54.070185.005055","volume":"54","author":"Y Hatefi","year":"1985","unstructured":"Hatefi Y (1985) The mitochondrial electron transport and oxidative phosphorylation system. Annu Rev Biochem 54:1015\u20131069","journal-title":"Annu Rev Biochem"},{"key":"2482_CR5","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1046\/j.1351-5101.2003.00728.x","volume":"11","author":"J Finsterer","year":"2004","unstructured":"Finsterer J (2004) Mitochondriopathies. Eur J Neurol 11:163\u2013186","journal-title":"Eur J Neurol"},{"key":"2482_CR6","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1007\/s00415-009-5028-3","volume":"256","author":"S Donato Di","year":"2009","unstructured":"Di Donato S (2009) Multisystem manifestations of mitochondrial disorders. J Neurol 256:693\u2013710","journal-title":"J Neurol"},{"key":"2482_CR7","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1056\/NEJMra022567","volume":"348","author":"S DiMauro","year":"2003","unstructured":"DiMauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348:2656\u20132668","journal-title":"N Engl J Med"},{"key":"2482_CR8","first-page":"25","volume":"31","author":"E Fosslien","year":"2001","unstructured":"Fosslien E (2001) Mitochondrial medicine - Molecular pathology of defective oxidative phosphorylation. Ann Clin Lab Sci 31:25\u201367","journal-title":"Ann Clin Lab Sci"},{"key":"2482_CR9","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.cmet.2012.07.015","volume":"16","author":"E Balsa","year":"2012","unstructured":"Balsa E, Marco R, Perales-Clemente E, Szklarczyk R, Calvo E, Land\u00e1zuri MO, Enr\u00edquez JA (2012) NDUFA4 is a subunit of complex IV of the mammalian electron transport chain. Cell Metab 16:378\u2013386","journal-title":"Cell Metab"},{"key":"2482_CR10","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/ddrr.108","volume":"16","author":"CM Quinzii","year":"2010","unstructured":"Quinzii CM, Hirano M (2010) Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev 16:183\u2013188","journal-title":"Dev Disabil Res Rev"},{"issue":"[suppl]","key":"2482_CR11","doi-asserted-by":"crossref","first-page":"S41","DOI":"10.1016\/j.mito.2007.02.006","volume":"7","author":"M Bentinger","year":"2007","unstructured":"Bentinger M, Brismar K, Dallner G (2007) The antioxidant role of coenzyme Q. Mitochondrion 7[suppl]:S41\u2013S50","journal-title":"Mitochondrion"},{"key":"2482_CR12","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1097\/WCO.0b013e3282ef58cd","volume":"20","author":"M Zeviani","year":"2007","unstructured":"Zeviani M, Carelli V (2007) Mitochondrial disorders. Curr Opin Neurol 20:564\u2013571","journal-title":"Curr Opin Neurol"},{"issue":"1\u20132","key":"2482_CR13","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.bbamem.2003.11.012","volume":"1660","author":"M Turunen","year":"2004","unstructured":"Turunen M, Olsson J, Dallner G (2004) Metabolism and function of coenzyme Q. Biochim Biophys Acta 1660(1\u20132):171\u2013199","journal-title":"Biochim Biophys Acta"},{"key":"2482_CR14","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1023\/A:1027339418683","volume":"17","author":"T Hirsch","year":"1997","unstructured":"Hirsch T, Marzo I, Kroemer G (1997) Role of the mitochondrial permeability transition pore in apoptosis. Biosci Rep 17:67\u201376","journal-title":"Biosci Rep"},{"key":"2482_CR15","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1007\/s10495-006-8417-4","volume":"11","author":"J Naderi","year":"2006","unstructured":"Naderi J, Somayajulu-Nitu M, Mukerji A, Sharda P, Sikorska M, Borowy-Borowski H, Antonsson B, Pandey S (2006) Water-soluble formulation of Coenzyme Q10 inhibits Bax-induced destabilization of mitochondria in mammalian cells. Apoptosis 11:1359\u20131369","journal-title":"Apoptosis"},{"key":"2482_CR16","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1172\/JCI45693","volume":"121","author":"SF Heeringa","year":"2011","unstructured":"Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, R\u00f6tig A, N\u00fcrnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, M\u00fcller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Oca\u00f1a C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, N\u00fcrnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F (2011) COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest 121:2013\u20132024","journal-title":"J Clin Invest"},{"key":"2482_CR17","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.abb.2007.03.034","volume":"462","author":"I Kim","year":"2007","unstructured":"Kim I, Rodriguez-Enriquez S, Lemasters JJ (2007) Selective degradation of mitochondria by mitophagy. Arch Biochem Biophys 462:245\u2013253","journal-title":"Arch Biochem Biophys"},{"issue":"Suppl.","key":"2482_CR18","doi-asserted-by":"crossref","first-page":"S62","DOI":"10.1016\/j.mito.2007.03.007","volume":"7","author":"UC Tran","year":"2007","unstructured":"Tran UC, Clarke CF (2007) Endogenous synthesis of coenzyme Q in eukaryotes. Mitochondrion 7[Suppl]:S62\u2013S71","journal-title":"Mitochondrion"},{"key":"2482_CR19","doi-asserted-by":"crossref","first-page":"2379","DOI":"10.1073\/pnas.86.7.2379","volume":"86","author":"S Ogasahara","year":"1989","unstructured":"Ogasahara S, Engel AG, Frens D, Mack D (1989) Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci USA 86:2379\u20132382","journal-title":"Proc Natl Acad Sci USA"},{"key":"2482_CR20","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1212\/WNL.48.5.1238","volume":"48","author":"C Sobreira","year":"1997","unstructured":"Sobreira C, Hirano M, Shanske S, Keller RK, Haller RG, Davidson E, Santorelli FM, Miranda AF, Bonilla E, Mojon DS, Barreira AA, King MP, DiMauro S (1997) Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology 48:1238\u20131243","journal-title":"Neurology"},{"key":"2482_CR21","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/S0022-510X(98)00006-9","volume":"156","author":"E Boitier","year":"1998","unstructured":"Boitier E, Degoul F, Desguerre I, Charpentier C, Fran\u00e7ois D, Ponsot G, Diry M, Rustin P, Marsac C (1998) A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency. J Neurol Sci 156:41\u201346","journal-title":"J Neurol Sci"},{"key":"2482_CR22","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/j.ajhg.2007.12.024","volume":"82","author":"C Lagier-Tourenne","year":"2008","unstructured":"Lagier-Tourenne C, Tazir M, L\u00f3pez LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M (2008) ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet 82:661\u2013672","journal-title":"Am J Hum Genet"},{"key":"2482_CR23","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1212\/WNL.56.7.849","volume":"56","author":"O Musumeci","year":"2001","unstructured":"Musumeci O, Naini A, Slonim AE, Skavin N, Hadjigeorgiou GL, Krawiecki N, Weissman BM, Tsao CY, Mendell JR, Shanske S, De Vivo DC, Hirano M, DiMauro S (2001) Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology 56:849\u2013855","journal-title":"Neurology"},{"key":"2482_CR24","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1212\/01.WNL.0000150588.75281.58","volume":"64","author":"CM Quinzii","year":"2005","unstructured":"Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, Hirano M (2005) Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 64:539\u2013541","journal-title":"Neurology"},{"key":"2482_CR25","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1212\/01.WNL.0000055089.39373.FC","volume":"60","author":"C Lamperti","year":"2003","unstructured":"Lamperti C, Naini A, Hirano M, De Vivo DC, Bertini E, Servidei S, Valeriani M, Lynch D, Banwell B, Berg M, Dubrovsky T, Chiriboga C, Angelini C, Pegoraro E, DiMauro S (2003) Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 60:1206\u20131208","journal-title":"Neurology"},{"key":"2482_CR26","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1212\/01.WNL.0000113719.67643.B7","volume":"62","author":"M Gironi","year":"2004","unstructured":"Gironi M, Lamperti C, Nemni R, Moggio M, Comi G, Guerini FR, Ferrante P, Canal N, Naini A, Bresolin N, DiMauro S (2004) Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. Neurology 62:818\u2013820","journal-title":"Neurology"},{"key":"2482_CR27","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1212\/01.WNL.0000134607.76780.B2","volume":"63","author":"K Aur\u00e9","year":"2004","unstructured":"Aur\u00e9 K, Benoist JF, Ogier de Baulny H, Romero NB, Rigal O, Lomb\u00e8s A (2004) Progression despite replacement of a myopathic form of coenzyme Q10 defect. Neurology 63:727\u2013729","journal-title":"Neurology"},{"key":"2482_CR28","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.ajhg.2007.12.022","volume":"82","author":"J Mollet","year":"2008","unstructured":"Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, R\u00f6tig A (2008) CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 82:623\u2013630","journal-title":"Am J Hum Genet"},{"key":"2482_CR29","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.jns.2006.01.021","volume":"246","author":"R Artuch","year":"2006","unstructured":"Artuch R, Brea-Calvo G, Briones P, Aracil A, Galv\u00e1n M, Espin\u00f3s C, Corral J, Volpini V, Ribes A, Andreu AL, Palau F, S\u00e1nchez-Alc\u00e1zar JA, Navas P, Pineda M (2006) Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. J Neurol Sci 246:153\u2013158","journal-title":"J Neurol Sci"},{"key":"2482_CR30","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1212\/01.wnl.0000252366.10731.43","volume":"68","author":"I Ber Le","year":"2007","unstructured":"Le Ber I, Dubourg O, Benoist JF, Jardel C, Mochel F, Koenig M, Brice A, Lomb\u00e8s A, D\u00fcrr A (2007) Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Neurology 68:295\u2013297","journal-title":"Neurology"},{"key":"2482_CR31","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1177\/0883073808314959","volume":"23","author":"S D\u2019Arrigo","year":"2008","unstructured":"D\u2019Arrigo S, Riva D, Bulgheroni S, Chiapparini L, Castellotti B, Gellera C, Pantaleoni C (2008) Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis. J Child Neurol 23:895\u2013900","journal-title":"J Child Neurol"},{"key":"2482_CR32","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/j.mito.2010.05.008","volume":"10","author":"M Gerards","year":"2010","unstructured":"Gerards M, van den Bosch B, Calis C, Schoonderwoerd K, van Engelen K, Tijssen M, de Coo R, van der Kooi A, Smeets H (2010) Nonsense mutations in CABC1\/ADCK3 cause progressive cerebellar ataxia and atrophy. Mitochondrion 10:510\u2013515","journal-title":"Mitochondrion"},{"key":"2482_CR33","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1007\/s10048-011-0281-x","volume":"12","author":"B Castellotti","year":"2011","unstructured":"Castellotti B, Mariotti C, Rimoldi M, Fancellu R, Plumari M, Caimi S, Uziel G, Nardocci N, Moroni I, Zorzi G, Pareyson D, Di Bella D, Di Donato S, Taroni F, Gellera C (2011) Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. Neurogenetics 12:193\u2013201","journal-title":"Neurogenetics"},{"key":"2482_CR34","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1002\/mds.23129","volume":"25","author":"M Pineda","year":"2010","unstructured":"Pineda M, Montero R, Aracil A, O\u2019Callaghan MM, Mas A, Espinos C, Martinez-Rubio D, Palau F, Navas P, Briones P, Artuch R (2010) Coenzyme Q(10)-responsive ataxia: 2-year treatment follow-up. Mov Disord 25:1262\u20131268","journal-title":"Mov Disord"},{"key":"2482_CR35","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1136\/jnnp-2011-301258","volume":"83","author":"R Horvath","year":"2012","unstructured":"Horvath R, Czermin B, Gulati S, Demuth S, Houge G, Pyle A, Dineiger C, Blakely EL, Hassani A, Foley C, Brodhun M, Storm K, Kirschner J, Gorman GS, Lochm\u00fcller H, Holinski-Feder E, Taylor RW, Chinnery PF (2012) Adult-onset cerebellar ataxia due to mutations in CABC1\/ADCK3. J Neurol Neurosurg Psychiatry 83:174\u2013178","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2482_CR36","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/S1096-7192(03)00097-0","volume":"79","author":"E Leshinsky-Silver","year":"2003","unstructured":"Leshinsky-Silver E, Levine A, Nissenkorn A, Barash V, Perach M, Buzhaker E, Shahmurov M, Polak-Charcon S, Lev D, Lerman-Sagie T (2003) Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency. Mol Genet Metab 79:288\u2013293","journal-title":"Mol Genet Metab"},{"key":"2482_CR37","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1086\/500092","volume":"78","author":"C Quinzii","year":"2006","unstructured":"Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M (2006) A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 78:345\u2013349","journal-title":"Am J Hum Genet"},{"key":"2482_CR38","doi-asserted-by":"crossref","first-page":"2773","DOI":"10.1681\/ASN.2006080833","volume":"18","author":"F Diomedi-Camassei","year":"2007","unstructured":"Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F (2007) COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol 18:2773\u20132780","journal-title":"J Am Soc Nephrol"},{"key":"2482_CR39","doi-asserted-by":"crossref","first-page":"2849","DOI":"10.1056\/NEJMc0800582","volume":"358","author":"G Montini","year":"2008","unstructured":"Montini G, Malaventura C, Salviati L (2008) Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. N Engl J Med 358:2849\u20132850","journal-title":"N Engl J Med"},{"key":"2482_CR40","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1067\/mpd.2001.117575","volume":"139","author":"S Rahman","year":"2001","unstructured":"Rahman S, Hargreaves I, Clayton P, Heales S (2001) Neonatal presentation of coenzyme Q10 deficiency. J Pediatr 139:456\u2013458","journal-title":"J Pediatr"},{"key":"2482_CR41","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1086\/510023","volume":"79","author":"LC L\u00f3pez","year":"2006","unstructured":"L\u00f3pez LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, Naini A, Dimauro S, Hirano (2006) Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet 79:1125\u20131129","journal-title":"Am J Hum Genet"},{"key":"2482_CR42","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.ajhg.2009.03.018","volume":"84","author":"AJ Duncan","year":"2009","unstructured":"Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, L\u00f3pez LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S (2009) A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet 84:558\u2013566","journal-title":"Am J Hum Genet"},{"key":"2482_CR43","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/S0140-6736(00)02531-9","volume":"356","author":"A R\u00f6tig","year":"2000","unstructured":"R\u00f6tig A, Appelkvist EL, Geromel V, Chretien D, Kadhom N, Edery P, Lebideau M, Dallner G, Munnich A, Ernster L, Rustin P (2000) Quinone-responsive multiple respiratory chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet 356:391\u2013395","journal-title":"Lancet"},{"key":"2482_CR44","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1172\/JCI29089","volume":"117","author":"J Mollet","year":"2007","unstructured":"Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, Delahodde A, Bacq D, de Lonlay P, Munnich A, R\u00f6tig A (2007) Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest 117:765\u2013772","journal-title":"J Clin Invest"},{"key":"2482_CR45","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1212\/WNL.57.3.515","volume":"57","author":"S Giovanni Di","year":"2001","unstructured":"Di Giovanni S, Mirabella M, Spinazzola A, Di Giovanni S, Mirabella M, Spinazzola A, Crociani P, Silvestri G, Broccolini A, Tonali P, Di Mauro S, Servidei S (2001) Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. Neurology 57:515\u2013518","journal-title":"Neurology"},{"key":"2482_CR46","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1001\/archneur.62.2.317","volume":"62","author":"SR Lalani","year":"2005","unstructured":"Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F (2005) Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Arch Neurol 62:317\u2013320","journal-title":"Arch Neurol"},{"key":"2482_CR47","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1212\/01.wnl.0000194241.35115.7c","volume":"66","author":"R Horvath","year":"2006","unstructured":"Horvath R, Schneiderat P, Schoser BG, Gempel K, Neuen-Jacob E, Pl\u00f6ger H, M\u00fcller-H\u00f6cker J, Pongratz DE, Naini A, DiMauro S, Lochm\u00fcller H (2006) Coenzyme Q10 deficiency and isolated myopathy. Neurology 66:253\u2013255","journal-title":"Neurology"},{"key":"2482_CR48","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1093\/brain\/awm054","volume":"130","author":"K Gempel","year":"2007","unstructured":"Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, P\u00e1lmafy B, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, DiMauro S, Prokisch H, Lochm\u00fcller H, Horvath R (2007) The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 130:2037\u20132044","journal-title":"Brain"},{"key":"2482_CR49","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1001\/archneurol.2012.206","volume":"69","author":"V Emmanuele","year":"2012","unstructured":"Emmanuele V, L\u00f3pez LC, Berardo A, Naini A, Tadesse S, Wen B, D\u2019Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M (2012) Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Arch Neurol 69:978\u2013983","journal-title":"Arch Neurol"},{"key":"2482_CR50","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1212\/01.wnl.0000172859.55579.a7","volume":"65","author":"L Salviati","year":"2005","unstructured":"Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, Laverda AM, Basso G, Quinzii C, Angelini C, Hirano M, Naini AB, Navas P, DiMauro S, Montini G (2005) Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. Neurology 65:606\u2013608","journal-title":"Neurology"},{"key":"2482_CR51","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.2174\/0929867033457160","volume":"10","author":"PC Waldmeier","year":"2003","unstructured":"Waldmeier PC, Zimmermann K, Qian T, Tintelnot-Blomley M, Lemasters JJ (2003) Cyclophilin D as a drug target. Curr Med Chem 10:1485\u20131506","journal-title":"Curr Med Chem"},{"key":"2482_CR52","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/0009-8981(94)90056-6","volume":"228","author":"D Chretien","year":"1994","unstructured":"Chretien D, Rustin P, Bourgeron T, R\u00f6tig A, Saudubray JM, Munnich A (1994) Reference charts for respiratory chain activities in human tissues. Clin Chim Acta 228:53\u201370","journal-title":"Clin Chim Acta"},{"key":"2482_CR53","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.nmd.2011.05.001","volume":"22","author":"S Rahman","year":"2012","unstructured":"Rahman S, Clarke CF, Hirano M (2012) 176th ENMC International Workshop: diagnosis and treatment of coenzyme Q10 deficiency. Neuromuscul Disord 22:76\u201386","journal-title":"Neuromuscul Disord"},{"key":"2482_CR54","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0091-679X(06)80004-X","volume":"80","author":"DM Kirby","year":"2007","unstructured":"Kirby DM, Thorburn DR, Turnbull DM, Taylor RW (2007) Biochemical assays of respiratory chain complex activity. Methods Cell Biol 80:93\u2013119","journal-title":"Methods Cell Biol"},{"key":"2482_CR55","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1136\/jmedgenet-2011-100394","volume":"49","author":"L Salviati","year":"2012","unstructured":"Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch R, Quinzii C, Dimauro S, Hirano M, Santos-Oca\u00f1a C, Navas P (2012) Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. J Med Genet 49:187\u2013191","journal-title":"J Med Genet"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-013-2482-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00467-013-2482-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-013-2482-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T01:04:00Z","timestamp":1559091840000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00467-013-2482-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,5]]},"references-count":55,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["2482"],"URL":"https:\/\/doi.org\/10.1007\/s00467-013-2482-z","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,5]]}}}