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Absence of peroxisomes was confirmed by electron microscopy in 3 patients; in the 4th patient we observed organelles of peculiar size and structure and with minimal catalase activity. Light microscopy also showed birefringent macrophages containing P.A.S.\u2010positive material; they were abundant in the 3 older children, and rare in the youngest (8 months). Peroxisomes and birefringent macrophages were absent in 2 patients with the cerebrohepatorenal syndrome of Zellweger. The simultaneous presence of these unique light microscopical characteristics may be of diagnostic value.<\/jats:p>","DOI":"10.1002\/ajmg.1320250210","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:09:08Z","timestamp":1118520548000},"page":"257-271","source":"Crossref","is-referenced-by-count":90,"title":["Hepatic peroxisomes are deficient in infantile refsum disease: A cytochemical study of 4 cases"],"prefix":"10.1002","volume":"25","author":[{"given":"Frank","family":"Roels","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfons","family":"Cornelis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bwee Tien","family":"Poll\u2010The","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Aubourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hel\u00e8ne","family":"Ogier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Scotto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Marie","family":"Saudubray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/S0022-2275(20)34397-2","article-title":"Gas liquid chromatographic mass spectrometric measurement of very long chain (C22 to C26) fatty acids in microliter samples of plasma","volume":"26","author":"Aubourg P","year":"1985","journal-title":"J Lipid Res"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(85)90003-6"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.49.1.77"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/33.5.2580885"},{"key":"e_1_2_1_6_1","first-page":"317","article-title":"Infantile phytanic acid storage disease: a variant of Refsum's disease?","volume":"139","author":"Boltshauser E","year":"1982","journal-title":"Eur J Pediatr"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(79)91512-2"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198410253111704"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.3109\/01913128309141830"},{"key":"e_1_2_1_10_1","first-page":"192","article-title":"Cytochemical localization of catalase and peroxidase in sinusoidal cells of rat liver","volume":"34","author":"Fahimi HD","year":"1976","journal-title":"Lab Invest"},{"key":"e_1_2_1_11_1","first-page":"379","article-title":"Peroxisomal abnormalities in neonatal adrenoleukodystrophy","volume":"14","author":"Farrell K","year":"1983","journal-title":"Ann Neurol"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00495414"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.182.4107.62"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3964959"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1982.tb21415.x"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.424737"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106058"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/306069a0"},{"key":"e_1_2_1_19_1","first-page":"100","article-title":"Neonatal adrenoleukodystrophy. 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