{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T00:23:58Z","timestamp":1791937438504,"version":"4.3.4"},"reference-count":12,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2009,12,23]],"date-time":"2009-12-23T00:00:00Z","timestamp":1261526400000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The peroxisomal biogenesis disorders (PBDs) comprise the Zellweger spectrum disorders (i.e., Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease) and rhizomelic chondrodysplasia punctata. Peroxisomal biogenesis disorders can be caused by mutations in any of 13 currently known <jats:italic>PEX<\/jats:italic> genes, which encode peroxins involved in peroxisomal protein import and\/or assembly of the organelle. We report here on a Turkish patient who presented with unusual clinical findings, that included non\u2010immune hydrops, dermal erythropoiesis and hypoplastic toenails, as well as common dysmorphic features of Zellweger syndrome. The patient has also pulmonary hypoplasia, which has been reported in only a few patients with Zellweger syndrome. A peroxisomal biogenesis disorder was confirmed by enzyme analysis and abnormal very long\u2010chain fatty acid (VLCFA) profiles in plasma and fibroblast and immunofluorescence microscopy studies. Subsequent molecular genetic analysis revealed a homozygous c.856C&gt;T mutation (R268X) in the <jats:italic>PEX3<\/jats:italic> gene, which made this patient the third to have a defect in this gene. In contrast to those of the two previously reported patients, the cells of this patient still contained peroxisomal membrane structures (ghosts), seen by immunofluorescence microscopy analysis. The case presented here and the two previously reported cases point out that a <jats:italic>PEX3<\/jats:italic> gene defect may present with fairly heterogeneous clinical findings. This case also raises a possibility that hydrops fetalis may be associated with a PEX3 gene defect and that peroxisomal disorders can be considered in the etiology of hydrops fetalis as well as other cell organelle disorders when one is considering yet undiscovered complementation groups in peroxisomal disorders.<\/jats:p>","DOI":"10.1007\/s10545-009-9010-0","type":"journal-article","created":{"date-parts":[[2009,12,22]],"date-time":"2009-12-22T08:55:53Z","timestamp":1261472153000},"page":"345-348","source":"Crossref","is-referenced-by-count":19,"title":["Zellweger syndrome with unusual findings: non\u2010immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails"],"prefix":"10.1002","volume":"32","author":[{"given":"Ali","family":"Dursun","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Metabolism and Nutrition Unit, Faculty of Medicine Hacettepe University Ankara 06100 Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safak","family":"Gucer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pathology Unit, Faculty of Medicine Hacettepe University Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. S.","family":"Ebberink","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Metabolic Diseases Academic Medical Center Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sule","family":"Yigit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neonatology Unit, Faculty of Medicine Hacettepe University Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. J. A.","family":"Wanders","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Metabolic Diseases Academic Medical Center Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. R.","family":"Waterham","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Metabolic Diseases Academic Medical Center Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,12,23]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.967"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/303086"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00443065"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2006.10.004"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/303071"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(95)70121-4"},{"key":"e_1_2_4_8_1","first-page":"1336","volume-title":"Human malformations and related anomalies","author":"Prendville JS","year":"2006"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/382492"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.13.1995"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050970"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005237-199912000-00004"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.70.2.F151"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-9010-0","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-009-9010-0","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-9010-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T03:16:30Z","timestamp":1694747790000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-9010-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12]]},"references-count":12,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["10.1007\/s10545-009-9010-0"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-9010-0","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,12]]}}}