{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T18:01:02Z","timestamp":1783360862102,"version":"3.54.6"},"publisher-location":"Berlin, Heidelberg","reference-count":25,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"value":"9783662583647","type":"print"},{"value":"9783662583654","type":"electronic"}],"license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017]]},"DOI":"10.1007\/8904_2017_78","type":"book-chapter","created":{"date-parts":[[2017,12,16]],"date-time":"2017-12-16T10:23:06Z","timestamp":1513419786000},"page":"61-70","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Mitochondrial Disease in Children: The Nephrologist\u2019s Perspective"],"prefix":"10.1007","author":[{"given":"Paula","family":"P\u00e9rez-Albert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"de Lucas Collantes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel \u00c1ngel","family":"Fern\u00e1ndez-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"de Rojas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Aparicio L\u00f3pez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Guti\u00e9rrez-Solana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,12,17]]},"reference":[{"key":"78_CR1","doi-asserted-by":"publisher","first-page":"1406","DOI":"10.1212\/01.WNL.0000033795.17156.00","volume":"59","author":"FP Bernier","year":"2002","unstructured":"Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR (2002) Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59:1406\u20131411","journal-title":"Neurology"},{"key":"78_CR2","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1007\/s10545-014-9778-4","volume":"38","author":"A Broomfield","year":"2015","unstructured":"Broomfield A, Sweeney MG, Woodward CE et al (2015) Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit Metab Dis 38:445\u2013457","journal-title":"J Inherit Metab Dis"},{"key":"78_CR3","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1002\/ana.75","volume":"49","author":"N Darin","year":"2001","unstructured":"Darin N, Oldfors A, Moslemi AR, Holme E, Tulinius M (2001) The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol 49:377\u2013383","journal-title":"Ann Neurol"},{"key":"78_CR4","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1016\/j.nmd.2004.12.008","volume":"15","author":"S DiMauro","year":"2005","unstructured":"DiMauro S, Hirano M (2005) Mitochondrial encephalomyopathies: an update. Neuromuscul Disord 15:276\u2013286","journal-title":"Neuromuscul Disord"},{"issue":"Suppl 1","key":"78_CR5","doi-asserted-by":"publisher","first-page":"S23","DOI":"10.1016\/j.nephro.2017.01.014","volume":"13","author":"F Emma","year":"2017","unstructured":"Emma F, Salviati L (2017) Mitochondrial cytopathies and the kidney. Nephrol Ther 13(Suppl 1):S23\u2013S28","journal-title":"Nephrol Ther"},{"key":"78_CR6","doi-asserted-by":"publisher","first-page":"609213","DOI":"10.4061\/2011\/609213","volume":"2011","author":"F Emma","year":"2011","unstructured":"Emma F, Montini G, Salviati L, Dionisi-Vici C (2011) Renal mitochondrial cytopathies. Int J Nephrol 2011:609213","journal-title":"Int J Nephrol"},{"key":"78_CR7","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1007\/s00467-011-1926-6","volume":"27","author":"F Emma","year":"2012","unstructured":"Emma F, Bertini E, Salviati L, Montini G (2012) Renal involvement in mitochondrial cytopathies. Pediatr Nephrol 27:539\u2013550","journal-title":"Pediatr Nephrol"},{"issue":"5","key":"78_CR8","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1002\/ana.24362","volume":"77","author":"AM Gorman","year":"2015","unstructured":"Gorman AM, Schaefer YN et al (2015) Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol 77(5):753\u2013759","journal-title":"Ann Neurol"},{"issue":"11","key":"78_CR9","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1038\/gim.2017.35","volume":"19","author":"Omar Hikmat","year":"2017","unstructured":"Hikmat O, Tzoulis C, Chong WK et al (2017) The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genet Med. \nhttps:\/\/doi.org\/10.1038\/gim.2017.35","journal-title":"Genetics in Medicine"},{"key":"78_CR10","unstructured":"Hospital\u2019s laboratory reference values. The local laboratory performed a study in healthy children with the laboratory techniques used in the Hospital"},{"issue":"2","key":"78_CR11","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1056\/NEJMoa1307581","volume":"370","author":"ED Klootwijk","year":"2014","unstructured":"Klootwijk ED, Reichold M, Helip-Wooley A et al (2014) Mistargeting of peroxisomal EHHADH and inherited renal Fanconi\u2019s syndrome. N Engl J Med 370(2):129\u2013138","journal-title":"N Engl J Med"},{"key":"78_CR12","doi-asserted-by":"publisher","first-page":"710","DOI":"10.1007\/s004670100637","volume":"16","author":"YS Lee","year":"2001","unstructured":"Lee YS, Kim Yap H, Barshop BA, Lee YS, Rajalingam S, Loke KY (2001) Mitochondrial tubulopathy: the many faces of mitochondrial disorders. Pediatr Nephrol 16:710\u2013712","journal-title":"Pediatr Nephrol"},{"key":"78_CR13","doi-asserted-by":"publisher","first-page":"1299","DOI":"10.1007\/s00467-005-1948-z","volume":"20","author":"E Mart\u00edn-Hern\u00e1ndez","year":"2005","unstructured":"Mart\u00edn-Hern\u00e1ndez E, Garc\u00eda-Silva MT, Vara J et al (2005) Renal pathology in children with mitochondrial diseases. Pediatr Nephrol 20:1299\u20131305","journal-title":"Pediatr Nephrol"},{"issue":"2","key":"78_CR14","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1016\/j.ymgme.2017.04.007","volume":"121","author":"S McCormack","year":"2017","unstructured":"McCormack S, Xiao R, Kilbaugh T et al (2017) Hospitalizations for mitochondrial disease across the lifespan in the U.S. Mol Genet Metab 121(2):119\u2013126","journal-title":"Mol Genet Metab"},{"key":"78_CR15","doi-asserted-by":"publisher","first-page":"1823","DOI":"10.1212\/01.wnl.0000244435.27645.54","volume":"67","author":"E Morava","year":"2006","unstructured":"Morava E, Van den Heuvel L, Hol F et al (2006) Mitochondrial disease criteria: diagnostic applications in children. Neurology 67:1823\u20131826","journal-title":"Neurology"},{"issue":"4","key":"78_CR16","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1016\/j.mito.2007.02.002","volume":"7","author":"AR Moslemi","year":"2007","unstructured":"Moslemi AR, Darin N (2007) Molecular genetics and clinical aspects of mitochondrial disorders in childhood. Mitochondrion 7(4):241\u2013252","journal-title":"Mitochondrion"},{"key":"78_CR17","doi-asserted-by":"publisher","first-page":"57","DOI":"10.2147\/IJNRD.S37887","volume":"7","author":"JF O\u2019Toole","year":"2014","unstructured":"O\u2019Toole JF (2014) Renal manifestations of genetic mitochondrial disease. Int J Nephrol Renovasc Dis 7:57\u201367","journal-title":"Int J Nephrol Renovasc Dis"},{"key":"78_CR18","volume":"4","author":"G Pfeffer","year":"2012","unstructured":"Pfeffer G, Majamaa K, Turnbull DM, Chinnery PF (2012) Treatment for mitochondrial disorders. Cochrane Database Syst Rev 4:CD004426","journal-title":"Cochrane Database Syst Rev"},{"key":"78_CR19","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1111\/j.1469-8749.2011.04214.x","volume":"54","author":"S Rahman","year":"2012","unstructured":"Rahman S (2012) Mitochondrial disease and epilepsy. Dev Med Child Neurol 54:397\u2013406","journal-title":"Dev Med Child Neurol"},{"key":"78_CR20","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1007\/s00467-012-2362-y","volume":"28","author":"S Rahman","year":"2013","unstructured":"Rahman S, Hall AM (2013) Mitochondrial disease: and important cause of end-stage renal failure. Pediatr Nephrol 28:357\u2013361","journal-title":"Pediatr Nephrol"},{"key":"78_CR21","first-page":"367","volume":"24","author":"A R\u00f6tig","year":"1995","unstructured":"R\u00f6tig A, Lehnert A, Rustin P et al (1995) Kidney involvement in mitochondrial disorders. Adv Nephrol Necker Hosp 24:367\u2013378","journal-title":"Adv Nephrol Necker Hosp"},{"key":"78_CR22","first-page":"39","volume-title":"Paediatric nephrology","author":"F Santos","year":"2006","unstructured":"Santos F, Garc\u00eda Nieto V (2006) Basal renal function. In: Paediatric nephrology, 2nd edn. Grupo Aula M\u00e9dica, Madrid, p 39","edition":"2"},{"key":"78_CR23","doi-asserted-by":"publisher","first-page":"925","DOI":"10.1542\/peds.2004-0718","volume":"114","author":"F Scaglia","year":"2004","unstructured":"Scaglia F, Towbin JA, Craigen WJ et al (2004) Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 114:925\u2013931","journal-title":"Pediatrics"},{"key":"78_CR24","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1111\/j.1469-8749.2009.03463.x","volume":"52","author":"CM Verity","year":"2010","unstructured":"Verity CM, Winstone AM, Stellitano L, Krishnakumar D, Will R, McFarland R (2010) The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study. Dev Med Child Neurol 52:434\u2013440","journal-title":"Dev Med Child Neurol"},{"key":"78_CR25","doi-asserted-by":"publisher","first-page":"2153","DOI":"10.1093\/brain\/awh259","volume":"127","author":"M Zeviani","year":"2004","unstructured":"Zeviani M, Di Donato S (2004) Mitochondrial disorders. Brain 127:2153\u20132172","journal-title":"Brain"}],"container-title":["JIMD Reports","JIMD Reports, Volume 42"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2017_78","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T14:58:16Z","timestamp":1557500296000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2017_78"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"ISBN":["9783662583647","9783662583654"],"references-count":25,"URL":"https:\/\/doi.org\/10.1007\/8904_2017_78","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"value":"2192-8304","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}