{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T17:38:10Z","timestamp":1789666690285,"version":"4.0.1"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2014,10,7]],"date-time":"2014-10-07T00:00:00Z","timestamp":1412640000000},"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":["Eur J Pediatr"],"published-print":{"date-parts":[[2015,4]]},"DOI":"10.1007\/s00431-014-2431-2","type":"journal-article","created":{"date-parts":[[2014,10,6]],"date-time":"2014-10-06T07:07:48Z","timestamp":1412579268000},"page":"557-563","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":70,"title":["Zellweger syndrome and secondary mitochondrial myopathy"],"prefix":"10.1007","volume":"174","author":[{"given":"Vincenzo","family":"Salpietro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Phadke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anand","family":"Saggar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iain P.","family":"Hargreaves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Yates","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christos","family":"Fokoloros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kshitij","family":"Mankad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"Hertecant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martino","family":"Ruggieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"McCormick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Kinali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,10,7]]},"reference":[{"key":"2431_CR1","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ajmg.a.20124","volume":"119A","author":"JK Ahn","year":"2003","unstructured":"Ahn JK, Lev D, Leshinsky-Silver E, Ginzberg M, Lerman-Sagie T (2003) A new autosomal recessive syndrome with Zellweger-like manifestations. Am J Med Genet A 119A:352\u2013355","journal-title":"Am J Med Genet A"},{"key":"2431_CR2","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1016\/S0002-9440(10)62534-5","volume":"159","author":"E Baumgart","year":"2001","unstructured":"Baumgart E, Vanhorebeek I, Grabenbauer M, Borgers M, Declercq PE, Fahimi HD, Baes M (2001) Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knock out mouse). Am J Pathol 159:1477\u20131494","journal-title":"Am J Pathol"},{"key":"2431_CR3","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1212\/WNL.51.5.1427","volume":"51","author":"MR Baumgartner","year":"1998","unstructured":"Baumgartner MR, Verhoeven NM, Jakobs C, Roels F, Espeel M, Martinez M, Rabier D, Wanders RJ, Saudubray JM (1998) Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease. Neurology 51:1427\u20131432","journal-title":"Neurology"},{"issue":"5","key":"2431_CR4","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1086\/302103","volume":"63","author":"CC Chang","year":"1998","unstructured":"Chang CC, Gould SJ (1998) Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. Am J Hum Genet 63(5):1294\u20131306","journal-title":"Am J Hum Genet"},{"key":"2431_CR5","first-page":"1337","volume":"1822","author":"Y Fujiki","year":"2012","unstructured":"Fujiki Y, Yagita Y, Matsuzaki T (2012) Peroxisome biogenesis disorders: molecular basis for impaired peroxisomal membrane assembly in metabolic functions and biogenesis of peroxisomes in health and disease. BiochimBiophysActa 1822:1337\u20131342","journal-title":"BiochimBiophysActa"},{"key":"2431_CR6","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1126\/science.182.4107.62","volume":"182","author":"S Goldfischer","year":"1973","unstructured":"Goldfischer S, Moore CL, Johnson AB, Spiro AJ, Valsamis MP, Wisniewski HK, Ritch RH, Norton WT, Gartner LM, RapinI (1973) Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 182:62\u20134.11","journal-title":"Science"},{"key":"2431_CR7","first-page":"3181","volume-title":"The metabolic and molecular bases of inherited disease. 8th 255 ed","author":"SJ Gould","year":"2001","unstructured":"Gould SJ, Raymond GV, Valle D (2001) The peroxisome biogenesis disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. 8th 255 ed. McGraw-Hill, New York, pp 3181\u2013218"},{"key":"2431_CR8","doi-asserted-by":"crossref","first-page":"1326","DOI":"10.1542\/peds.2007-0391","volume":"120","author":"RH Haas","year":"2007","unstructured":"Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI (2007) Mitochondrial disease: a practical approach for primary care physicians. Pediatrics 120:1326\u20131333","journal-title":"Pediatrics"},{"key":"2431_CR9","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.mito.2007.02.001","volume":"7","author":"IP Hargreaves","year":"2007","unstructured":"Hargreaves IP, Duncan AJ, Wu L, Agrawal A, Land JM, Heales SJ (2007) Inhibition of mitochondrial complex IV leads to secondary loss of complex II\u2013III activity: Implications for the pathogenesis and treatment of mitochondrial encephalomyopathies. Mitochondrion 7:284\u2013287","journal-title":"Mitochondrion"},{"key":"2431_CR10","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1007\/BF01799414","volume":"19","author":"SJ Heales","year":"1996","unstructured":"Heales SJ, Bolanos JP, Brand MP, Clark JB, Land JM (1996) Mitochondrial damage: an important feature in a number of inborn errors of metabolism. J Inher Metab Dis 19:140\u2013142","journal-title":"J Inher Metab Dis"},{"key":"2431_CR11","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1001\/archneurol.2007.65","volume":"65","author":"M Hirano","year":"2008","unstructured":"Hirano M, Angelini C, Montagna P, Hays AP, Tanji K, Mitsumoto H, Gordon PH, Naini AB, DiMauro S, Rowland LP (2008) Amyotrophic lateral sclerosis with ragged-red fibers. Arch Neurol 65:403\u2013406","journal-title":"Arch Neurol"},{"key":"2431_CR12","first-page":"202","volume":"20","author":"CD Katsetos","year":"2013","unstructured":"Katsetos CD, Koutzaki S, Melvin JJ (2013) Mitochondrial dysfunction in neuromuscular disorders. SeminPediatrNeurol 20:202\u2013215","journal-title":"SeminPediatrNeurol"},{"key":"2431_CR13","first-page":"25","volume":"45","author":"J M\u00fcller-H\u00f6cker","year":"1984","unstructured":"M\u00fcller-H\u00f6cker J, Walther JU, Bise K, Pongratz D, H\u00fcbner G (1984) Mitochondrial myopathy with loosely coupled oxidative phosphorylation in a case of Zellweger syndrome. A cytochemical-ultrastructural study. Virchows Arch B Cell PatholInclMolPathol 45:25\u201338.12","journal-title":"Virchows Arch B Cell PatholInclMolPathol"},{"key":"2431_CR14","doi-asserted-by":"crossref","first-page":"14674","DOI":"10.1074\/jbc.M200997200","volume":"277","author":"JC Okun","year":"2002","unstructured":"Okun JC, Horster F, Farkas LM, Feyh P, Hinz A, Sauer S, Hoffmann GF, Unsicker K, Mayatepek E, Kolker S (2002) Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem 277:14674\u201314680","journal-title":"J Biol Chem"},{"key":"2431_CR15","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1017\/S0317167100044863","volume":"10","author":"HB Sarnat","year":"1983","unstructured":"Sarnat HB, Machin G, Darwish HZ, Rubin SZ (1983) Mitochondrial myopathy of cerebro-hepatorenal (Zellweger) syndrome. Can J Neurol Sci 10:170\u2013177","journal-title":"Can J Neurol Sci"},{"key":"2431_CR16","doi-asserted-by":"crossref","first-page":"7136","DOI":"10.1074\/jbc.M513198200","volume":"281","author":"P Schonfeld","year":"2006","unstructured":"Schonfeld P, Reiser G (2006) Rotenone-like action of the branched chain phytanic acid induces oxidative stress in mitochondria. J Biol Chem 281:7136\u20137142","journal-title":"J Biol Chem"},{"issue":"1","key":"2431_CR17","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1111\/j.1399-0004.2010.01498.x","volume":"79","author":"R Shaheen","year":"2011","unstructured":"Shaheen R, Al-Dirbashi OY, Al-Hassnan ZN, Al-Owain M, Makhsheed N, Basheeri F, Seidahmed MZ, Salih MA, Faqih E, Zaidan H, Al-Sayed M, Rahbeeni Z, Al-Sheddi T, Hashem M, Kurdi W, Shimozawa N, Alkuraya FS (2011) Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs. Clin Genet 79(1):60\u201370","journal-title":"Clin Genet"},{"key":"2431_CR18","unstructured":"Steinberg SJ, Raymond GV, Braverman NE, Moser AB. Peroxisome biogenesis disorders, Zellweger syndrome spectrum. Updated 2012 May 10 GeneReviews: available at http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1448\/"},{"issue":"2","key":"2431_CR19","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1111\/j.1399-0004.2004.00329.x","volume":"67","author":"RJ Wanders","year":"2005","unstructured":"Wanders RJ, Waterham HR (2005) Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet 67(2):107\u2013133","journal-title":"Clin Genet"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-014-2431-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-014-2431-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-014-2431-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,15]],"date-time":"2019-08-15T21:53:17Z","timestamp":1565905997000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-014-2431-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,7]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["2431"],"URL":"https:\/\/doi.org\/10.1007\/s00431-014-2431-2","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,7]]}}}