{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T15:15:34Z","timestamp":1794410134454,"version":"4.9.0"},"publisher-location":"Berlin, Heidelberg","reference-count":13,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"value":"9783642281280","type":"print"},{"value":"9783642281297","type":"electronic"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012]]},"DOI":"10.1007\/8904_2011_102","type":"book-chapter","created":{"date-parts":[[2012,1,28]],"date-time":"2012-01-28T10:06:48Z","timestamp":1327745208000},"page":"43-46","source":"Crossref","is-referenced-by-count":28,"title":["Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations"],"prefix":"10.1007","author":[{"given":"Andrea","family":"Mignarri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Vinciguerra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Giorgio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sacha","family":"Ferdinandusse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Waterham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald","family":"Wanders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Dotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Federico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,1,29]]},"reference":[{"key":"102_CR1","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1212\/01.WNL.0000106943.40848.03","volume":"62","author":"PG Barth","year":"2004","unstructured":"Barth PG, Majoie CB, Gootjes J et al (2004) Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival. Neurology 62:439\u2013444","journal-title":"Neurology"},{"key":"102_CR2","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1001\/archneur.58.1.65","volume":"58","author":"N Stefano De","year":"2001","unstructured":"De Stefano N, Narayanan S, Francis GS et al (2001) Evidence of axonal damage in the early stages of multiple sclerosis and its relevance to disability. Arch Neurol 58:65\u201370","journal-title":"Arch Neurol"},{"key":"102_CR3","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1136\/jmg.2009.074302","volume":"47","author":"MS Ebberink","year":"2010","unstructured":"Ebberink MS, Csanyi B, Chong WK et al (2010) Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J Med Genet 47:608\u2013615","journal-title":"J Med Genet"},{"key":"102_CR4","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1002\/humu.21388","volume":"32","author":"MS Ebberink","year":"2011","unstructured":"Ebberink MS, Mooijer PA, Gootjes J, Koster J, Wanders RJ, Waterham HR (2011) Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum Mutat 32:59\u201369","journal-title":"Hum Mutat"},{"key":"102_CR5","doi-asserted-by":"publisher","first-page":"724","DOI":"10.1016\/j.bbamcr.2010.01.002","volume":"1803","author":"W Girzalsky","year":"2010","unstructured":"Girzalsky W, Saffian D, Erdmann R (2010) Peroxisomal protein translocation. Biochim Biophys Acta 1803:724\u2013731","journal-title":"Biochim Biophys Acta"},{"key":"102_CR6","doi-asserted-by":"publisher","first-page":"1746","DOI":"10.1212\/01.WNL.0000036609.14203.70","volume":"59","author":"J Gootjes","year":"2002","unstructured":"Gootjes J, Mooijer PA, Dekker C et al (2002) Biochemical markers predicting survival in peroxisome biogenesis disorders. Neurology 59:1746\u20131749","journal-title":"Neurology"},{"key":"102_CR7","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1203\/01.PDR.0000106862.83469.8D","volume":"55","author":"J Gootjes","year":"2004","unstructured":"Gootjes J, Elpeleg O, Eyskens F et al (2004) Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. Pediatr Res 55:431\u2013436","journal-title":"Pediatr Res"},{"key":"102_CR8","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1002\/ajmg.a.20664","volume":"126","author":"BT Poll-The","year":"2004","unstructured":"Poll-The BT, Gootjes J, Duran M et al (2004) Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. Am J Med Genet A 126:333\u2013338","journal-title":"Am J Med Genet A"},{"key":"102_CR9","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1002\/ana.22035","volume":"68","author":"L R\u00e9gal","year":"2010","unstructured":"R\u00e9gal L, Ebberink MS, Goemans N et al (2010) Mutations in PEX10 are a cause of autosomal recessive ataxia. Ann Neurol 68:259\u2013263","journal-title":"Ann Neurol"},{"key":"102_CR10","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1186\/1750-1172-6-8","volume":"6","author":"C Sevin","year":"2011","unstructured":"Sevin C, Ferdinandusse S, Waterham HR, Wanders RJ, Aubourg P (2011) Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. Orphanet J Rare Dis 6:8","journal-title":"Orphanet J Rare Dis"},{"key":"102_CR11","doi-asserted-by":"publisher","first-page":"1733","DOI":"10.1016\/j.bbamcr.2006.09.010","volume":"1763","author":"SJ Steinberg","year":"2006","unstructured":"Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW (2006) Peroxisome biogenesis disorders. Biochim Biophys Acta 1763:1733\u20131748","journal-title":"Biochim Biophys Acta"},{"key":"102_CR12","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1007\/s10545-008-0856-3","volume":"31","author":"S Weller","year":"2008","unstructured":"Weller S, Rosewich H, G\u00e4rtner J (2008) Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients. J Inherit Metab Dis 31:270\u2013280","journal-title":"J Inherit Metab Dis"},{"key":"102_CR13","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1007\/s10038-007-0157-y","volume":"52","author":"A Zeharia","year":"2007","unstructured":"Zeharia A, Ebberink MS, Wanders RJ et al (2007) A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C. J Hum Genet 52:599\u2013606","journal-title":"J Hum Genet"}],"container-title":["JIMD Reports","JIMD Reports - Case and Research Reports, 2012\/3"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2011_102","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T11:39:54Z","timestamp":1713440394000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2011_102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"ISBN":["9783642281280","9783642281297"],"references-count":13,"URL":"https:\/\/doi.org\/10.1007\/8904_2011_102","relation":{"is-part-of":[{"id-type":"doi","id":"https:\/\/doi.org\/10.1007\/978-3-642-28129-7","asserted-by":"object"}]},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"value":"2192-8304","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012]]}}}