{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T05:12:46Z","timestamp":1790053966682,"version":"4.0.1"},"reference-count":39,"publisher":"Hindawi Limited","issue":"2","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":4092,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"Prinses Beatrix Fonds","award":["99.0220"],"award-info":[{"award-number":["99.0220"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2004,8]]},"DOI":"10.1002\/humu.20062","type":"journal-article","created":{"date-parts":[[2004,6,18]],"date-time":"2004-06-18T20:01:46Z","timestamp":1087588906000},"page":"130-139","source":"Crossref","is-referenced-by-count":38,"title":["Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40\u00b0C: Implications for other inborn errors of metabolism"],"prefix":"10.1155","volume":"24","author":[{"given":"Jeannette","family":"Gootjes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Schmohl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra A.W.","family":"Mooijer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conny","family":"Dekker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Mandel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meral","family":"Topcu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Huemer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"von Sch\u00fctz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thorsten","family":"Marquardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan A.","family":"Smeitink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans R.","family":"Waterham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J.A.","family":"Wanders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2004,6,18]]},"reference":[{"key":"10.1002\/humu.20062-BIB1|cit1","doi-asserted-by":"crossref","first-page":"1949","DOI":"10.1212\/WNL.57.11.1949","article-title":"Late onset white matter disease in peroxisome biogenesis disorder","volume":"57","author":"Barth","year":"2001","journal-title":"Neurology"},{"key":"10.1002\/humu.20062-BIB2|cit2","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1083\/jcb.147.4.761","article-title":"PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import","volume":"147","author":"Chang","year":"1999","journal-title":"J Cell Biol"},{"key":"10.1002\/humu.20062-BIB3|cit3","doi-asserted-by":"crossref","first-page":"1080","DOI":"10.1056\/NEJM198410253111704","article-title":"Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes","volume":"311","author":"Datta","year":"1984","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.20062-BIB4|cit4","doi-asserted-by":"crossref","first-page":"37271","DOI":"10.1074\/jbc.M006347200","article-title":"Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder","volume":"275","author":"Fujiwara","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20062-BIB5|cit5","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1038\/sj.ejhg.5201090","article-title":"Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder","volume":"12","author":"Gootjes","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.20062-BIB6|cit6","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1016\/S0168-9525(00)02056-4","article-title":"Peroxisome biogenesis disorders: genetics and cell biology","volume":"16","author":"Gould","year":"2000","journal-title":"Trends Genet"},{"key":"10.1002\/humu.20062-BIB7|cit7","first-page":"3181","volume-title":"The metabolic and molecular bases of inherited disease","author":"Gould","year":"2001"},{"key":"10.1002\/humu.20062-BIB8|cit8","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1038\/306069a0","article-title":"Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome)","volume":"306","author":"Heymans","year":"1983","journal-title":"Nature"},{"key":"10.1002\/humu.20062-BIB9|cit9","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.1093\/hmg\/7.13.2089","article-title":"Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders","volume":"7","author":"Imamura","year":"1998a","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20062-BIB10|cit10","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1086\/301881","article-title":"Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders","volume":"62","author":"Imamura","year":"1998b","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20062-BIB11|cit11","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/S0387-7604(99)00072-8","article-title":"Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans","volume":"22","author":"Imamura","year":"2000a","journal-title":"Brain Dev"},{"key":"10.1002\/humu.20062-BIB12|cit12","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1203\/00006450-200010000-00020","article-title":"Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1","volume":"48","author":"Imamura","year":"2000b","journal-title":"Pediatr Res"},{"key":"10.1002\/humu.20062-BIB13|cit13","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1136\/jmg.38.12.871","article-title":"Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders","volume":"38","author":"Imamura","year":"2001","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20062-BIB14|cit14","doi-asserted-by":"crossref","first-page":"3275","DOI":"10.1002\/j.1460-2075.1996.tb00692.x","article-title":"Characterization of a novel component of the peroxisomal protein import apparatus using fluorescent peroxisomal proteins","volume":"15","author":"Kalish","year":"1996","journal-title":"EMBO J"},{"key":"10.1002\/humu.20062-BIB15|cit15","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1002\/ajmg.1320230404","article-title":"Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes","volume":"23","author":"Kelley","year":"1986","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20062-BIB16|cit16","doi-asserted-by":"crossref","first-page":"4243","DOI":"10.1091\/mbc.E02-06-0322","article-title":"Peroxisome senescence in human fibroblasts","volume":"13","author":"Legakis","year":"2002","journal-title":"Mol Biol Cell"},{"key":"10.1002\/humu.20062-BIB17|cit17","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/0167-4838(94)90068-X","article-title":"Purification of peroxisomal acyl-CoA: dihydroxyacetonephosphate acyltransferase from human placenta","volume":"1206","author":"Ofman","year":"1994","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/humu.20062-BIB18|cit18","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng1197-265","article-title":"PEX12 encodes an integral membrane protein of peroxisomes [letter]","volume":"17","author":"Okumoto","year":"1997","journal-title":"Nat Genet"},{"key":"10.1002\/humu.20062-BIB19|cit19","doi-asserted-by":"crossref","first-page":"4324","DOI":"10.1128\/MCB.18.7.4324","article-title":"PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p","volume":"18","author":"Okumoto","year":"1998","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.20062-BIB20|cit20","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/BF00441598","article-title":"Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy","volume":"146","author":"Poll-The","year":"1987","journal-title":"Eur J Pediatr"},{"key":"10.1002\/humu.20062-BIB21|cit21","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"},{"key":"10.1002\/humu.20062-BIB22|cit22","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":"10.1002\/humu.20062-BIB23|cit23","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1083\/jcb.134.4.849","article-title":"Targeting of human catalase to peroxisomes is dependent upon a novel COOH-terminal peroxisomal targeting sequence","volume":"134","author":"Purdue","year":"1996","journal-title":"J Cell Biol"},{"key":"10.1002\/humu.20062-BIB24|cit24","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":"10.1002\/humu.20062-BIB25|cit25","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/ng1297-445","article-title":"Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders","volume":"17","author":"Reuber","year":"1997","journal-title":"Nat Genet"},{"key":"10.1002\/humu.20062-BIB26|cit26","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/BF00711818","article-title":"A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts","volume":"17","author":"Schutgens","year":"1994","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.20062-BIB27|cit27","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1093\/hmg\/8.6.1077","article-title":"Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders","volume":"8","author":"Shimozawa","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20062-BIB28|cit28","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1006\/bbrc.1999.2082","article-title":"Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient","volume":"268","author":"Shimozawa","year":"2000","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.20062-BIB29|cit29","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/S1096-7192(03)00098-2","article-title":"Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry","volume":"79","author":"Valianpour","year":"2003","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.20062-BIB30|cit30","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1086\/302180","article-title":"Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis","volume":"64","author":"van Grunsven","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20062-BIB31|cit31","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/S0378-4347(98)00186-8","article-title":"Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry","volume":"713","author":"Vreken","year":"1998a","journal-title":"J Chromatogr B Biomed Sci Appl"},{"key":"10.1002\/humu.20062-BIB32|cit32","doi-asserted-by":"crossref","first-page":"2452","DOI":"10.1016\/S0022-2275(20)33325-3","article-title":"Sensitive analysis of serum 3alpha, 7alpha, 12alpha,24-tetrahydroxy-5beta-cholestan-26-oic acid diastereomers using gas chromatography-mass spectrometry and its application in peroxisomal D-bifunctional protein deficiency","volume":"39","author":"Vreken","year":"1998b","journal-title":"J Lipid Res"},{"key":"10.1002\/humu.20062-BIB33|cit33","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1023\/A:1005676507682","article-title":"Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders","volume":"23","author":"Vreken","year":"2000","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.20062-BIB34|cit34","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":"10.1002\/humu.20062-BIB35|cit35","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/0005-2760(93)90239-6","article-title":"Studies on phytanic acid alpha-oxidation in rat liver and cultured human skin fibroblasts","volume":"1167","author":"Wanders","year":"1993","journal-title":"Biochim Biophys Acta"},{"issue":"Suppl 1","key":"10.1002\/humu.20062-BIB36|cit36","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/BF00711433","article-title":"Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients","volume":"18","author":"Wanders","year":"1995a","journal-title":"J Inherit Metab Dis"},{"issue":"suppl 1","key":"10.1002\/humu.20062-BIB37|cit37","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1007\/BF00711434","article-title":"Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts","volume":"18","author":"Wanders","year":"1995b","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.20062-BIB38|cit38","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1097\/00005072-199509000-00016","article-title":"Peroxisomal disorders: a review","volume":"54","author":"Wanders","year":"1995c","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1002\/humu.20062-BIB39|cit39","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1136\/jmg.37.7.510","article-title":"Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)","volume":"37","author":"Watkins","year":"2000","journal-title":"J Med Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.20062","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.20062","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:51:32Z","timestamp":1672332692000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.20062"}},"subtitle":["MOLECULAR ANALYSIS OF PEROXISOME MOSAICISM PATIENTS"],"short-title":[],"issued":{"date-parts":[[2004,6,18]]},"references-count":39,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,8]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.20062","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2004,6,18]]}}}