{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T07:16:47Z","timestamp":1763018207691,"version":"build-2065373602"},"reference-count":35,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,6,7]],"date-time":"2020-06-07T00:00:00Z","timestamp":1591488000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100015822","name":"Fondazione Roma","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100015822","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2020,9]]},"DOI":"10.1016\/j.ymgmr.2020.100615","type":"journal-article","created":{"date-parts":[[2020,6,19]],"date-time":"2020-06-19T23:20:50Z","timestamp":1592608850000},"page":"100615","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female"],"prefix":"10.1016","volume":"24","author":[{"given":"Maria Rosaria","family":"Barillari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianthi","family":"Karali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Di Iorio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Contaldo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Piccolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Esposito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Argenziano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosario","family":"Serpico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Carotenuto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerarda","family":"Cappuccio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandro","family":"Banfi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Melillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Simonelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgmr.2020.100615_bb0005","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-015-0368-9","article-title":"Zellweger spectrum disorders: clinical overview and management approach","volume":"10","author":"Klouwer","year":"2015","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0010","doi-asserted-by":"crossref","first-page":"D815","DOI":"10.1093\/nar\/gkl935","article-title":"PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease","volume":"35","author":"Schluter","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0015","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1016\/j.bbamcr.2006.09.010","article-title":"Peroxisome biogenesis disorders","volume":"1763","author":"Steinberg","year":"2006","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgmr.2020.100615_bb0020","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/ddrr.1113","article-title":"Peroxisome biogenesis disorders: biological, clinical and pathophysiological perspectives","volume":"17","author":"Braverman","year":"2013","journal-title":"Dev. Disabil. Res. Rev."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0025","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.ymgme.2015.12.009","article-title":"Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines","volume":"117","author":"Braverman","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0030","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/ajmg.1320240109","article-title":"Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy","volume":"24","author":"Wilson","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0035","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1126\/science.1546315","article-title":"A human gene responsible for Zellweger syndrome that affects peroxisome assembly","volume":"255","author":"Shimozawa","year":"1992","journal-title":"Science"},{"key":"10.1016\/j.ymgmr.2020.100615_bb0040","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1203\/00006450-200206000-00008","article-title":"PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease","volume":"51","author":"Preuss","year":"2002","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0045","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.ymgme.2004.08.008","article-title":"The PEX gene screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum","volume":"83","author":"Steinberg","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0050","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1002\/ajmg.a.20664","article-title":"Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients","volume":"126A","author":"Poll-The","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgmr.2020.100615_bb0055","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1086\/321265","article-title":"Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels","volume":"69","author":"Walter","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0060","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1002\/ajmg.1320390214","article-title":"Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs","volume":"39","author":"Heimler","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0065","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.ejmg.2005.07.003","article-title":"Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls","volume":"49","author":"Ong","year":"2006","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0070","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1097\/00019605-200301000-00010","article-title":"Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler\u2019s syndrome","volume":"12","author":"Pollak","year":"2003","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0075","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1136\/jmg.36.12.942","article-title":"Amelogenesis imperfecta, sensorineural hearing loss, and Beau\u2019s lines, a second case report of Heimler\u2019s syndrome","volume":"36","author":"Tischkowitz","year":"1999","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0080","doi-asserted-by":"crossref","first-page":"97","DOI":"10.3109\/13816810.2010.551797","article-title":"Macular dystrophy in Heimler syndrome","volume":"32","author":"Lima","year":"2011","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0085","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/1531-8249(199901)45:1<100::AID-ART16>3.0.CO;2-U","article-title":"Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls","volume":"45","author":"Moser","year":"1999","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0090","first-page":"197","article-title":"Examination of very long chain fatty acids in diagnosis of x-linked adrenoleukodystrophy","volume":"71","author":"Stradomska","year":"1996","journal-title":"Pediatr. Pol."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0095","doi-asserted-by":"crossref","DOI":"10.3390\/genes8100280","article-title":"Clinical and genetic evaluation of a cohort of pediatric patients with severe inherited retinal dystrophies","volume":"8","author":"Di Iorio","year":"2017","journal-title":"Genes"},{"key":"10.1016\/j.ymgmr.2020.100615_bb0100","doi-asserted-by":"crossref","first-page":"e58","DOI":"10.1136\/jmg.2005.033324","article-title":"Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations","volume":"42","author":"Rosewich","year":"2005","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0105","first-page":"75","article-title":"Diagnosis of a mild peroxisomal phenotype with next-generation sequencing","volume":"9","author":"Ventura","year":"2016","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0110","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.ejmg.2016.09.004","article-title":"Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene","volume":"59","author":"Ratbi","year":"2016","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0115","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1111\/j.1399-0004.2004.00329.x","article-title":"Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders","volume":"67","author":"Wanders","year":"2005","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0120","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/s13353-019-00523-w","article-title":"Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants","volume":"61","author":"Lipinski","year":"2020","journal-title":"J. Appl. Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0125","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1038\/ejhg.2016.62","article-title":"Spectrum of PEX1 and PEX6 variants in Heimler syndrome","volume":"24","author":"Smith","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0130","doi-asserted-by":"crossref","first-page":"131","DOI":"10.3109\/01913123.2014.960544","article-title":"In vivo microstructural analysis of enamel in permanent and deciduous teeth","volume":"39","author":"Gentile","year":"2015","journal-title":"Ultrastruct. Pathol."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0135","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1007\/s10266-014-0155-4","article-title":"Non-invasive in vivo visualization of enamel defects by reflectance confocal microscopy (RCM)","volume":"103","author":"Contaldo","year":"2015","journal-title":"Odontology"},{"key":"10.1016\/j.ymgmr.2020.100615_bb0140","doi-asserted-by":"crossref","first-page":"938","DOI":"10.14219\/jada.archive.2011.0300","article-title":"Treatment of enamel hypoplasia in a patient with usher syndrome","volume":"142","author":"de la Pena","year":"2011","journal-title":"J. Am. Dent. Assoc."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0145","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1007\/s10266-013-0110-9","article-title":"In vivo imaging of enamel by reflectance confocal microscopy (RCM): non-invasive analysis of dental surface","volume":"102","author":"Contaldo","year":"2014","journal-title":"Odontology"},{"key":"10.1016\/j.ymgmr.2020.100615_bb0150","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1086\/339766","article-title":"A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling usher syndrome in the affected parents","volume":"70","author":"Raas-Rothschild","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0155","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.ajhg.2015.08.011","article-title":"Heimler syndrome is caused by Hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6","volume":"97","author":"Ratbi","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0160","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/humu.22934","article-title":"PEX6 is expressed in photoreceptor cilia and mutated in Deafblindness with enamel dysplasia and microcephaly","volume":"37","author":"Zaki","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0165","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1007\/s13353-017-0414-5","article-title":"Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity","volume":"58","author":"Rydzanicz","year":"2017","journal-title":"J. Appl. Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0170","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1007\/s10038-007-0157-y","article-title":"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 C","volume":"52","author":"Zeharia","year":"2007","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.ymgmr.2020.100615_bb0175","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1002\/ana.22035","article-title":"Mutations in PEX10 are a cause of autosomal recessive ataxia","volume":"68","author":"Regal","year":"2010","journal-title":"Ann. Neurol."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426920300616?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426920300616?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:52:08Z","timestamp":1762001528000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426920300616"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9]]},"references-count":35,"alternative-id":["S2214426920300616"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2020.100615","relation":{},"ISSN":["2214-4269"],"issn-type":[{"type":"print","value":"2214-4269"}],"subject":[],"published":{"date-parts":[[2020,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2020.100615","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100615"}}