{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,11]],"date-time":"2025-07-11T10:39:04Z","timestamp":1752230344924},"reference-count":82,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[1989,3,1]],"date-time":"1989-03-01T00:00:00Z","timestamp":604713600000},"content-version":"vor","delay-in-days":0,"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":[[1989,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Peroxisomes play an essential role in human cellular metabolism. Peroxisomal disorders, a group of genetic diseases caused by peroxisomal dysfunction, can be classified into three groups: (1) disorders of peroxisome biogenesis with a generalized loss of peroxisomal functions (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, hyperpipecolic acidaemia); (2) disorders with a loss of multiple peroxisomal functions (rhizomelic chondrodysplasia punctata and Zellweger\u2010like syndrome; (3) disorders with loss of a single peroxisomal function (X\u2010linked adrenoleukodystrophy, peroxisomal thiolase deficiency, bifunctional protein deficiency, acyl\u2010CoA oxidase deficiency, classic Refsum disease, hyperoxaluria type I and acatalasaemia). Prenatal diagnosis is indicated in all these genetic disorders with the exception of classic Refsum disease, most types of hyperoxaluria type I and acatalasaemia.<\/jats:p><jats:p>A variety of techniques is available now for the prenatal diagnosis of peroxisomal disorders in the first or second trimester of gestation. Prenatal diagnosis was performed by us in 70 pregnancies at risk for a disorder of peroxisome biogenesis, three for rhizomelic chondrodysplasia punctata, four for X\u2010linked adrenoleukodystrophy and two for a defect in peroxisomal \u03b2\u2010oxidation. Fourteen affected fetuses were identified; no false negative cases were obtained.<\/jats:p>","DOI":"10.1007\/bf01799291","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:33:36Z","timestamp":1119375216000},"page":"118-134","source":"Crossref","is-referenced-by-count":44,"title":["Prenatal and perinatal diagnosis of peroxisomal disorders"],"prefix":"10.1002","volume":"12","author":[{"given":"R. B. H.","family":"Schutgens","sequence":"first","affiliation":[{"name":"Department of Pediatrics University Hospital Amsterdam, AMC Meibergdreef 9 Amsterdam 1105 AZ The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Schrakamp","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry State University of Utrecht Padualaan 8 Utrecht 3584 CK The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. J. A.","family":"Wanders","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Amsterdam, AMC Meibergdreef 9 Amsterdam 1105 AZ The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. S. A.","family":"Heymans","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Amsterdam, AMC Meibergdreef 9 Amsterdam 1105 AZ The Netherlands"},{"name":"Department of Pediatrics University of Groningen Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. M.","family":"Tager","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry University of Amsterdam, AMC Meibergdreef 15 Amsterdam 1105 AZ The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"van den Bosch","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry State University of Utrecht Padualaan 8 Utrecht 3584 CK The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1989,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-71325-5_5"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410210406"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441774"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/33.5.3921604"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198506000-00018"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01242.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293039"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113510"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970060311"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(86)80563-4"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","unstructured":"Danpure C. J. Cooper P. J. Jennings P. R. Wise P. J. Penketh R. J.andRodeck C. H.Enzymatic prenatal diagnosis of primary hyperoxaluria type 1: successes and potential problems.26th SSIEM Annual Symposium 1988 Abstract 012.","DOI":"10.1007\/978-94-009-1069-0_29"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1966.46.2.323"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(87)91439-2"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.182.4107.62"},{"key":"e_1_2_1_16_1","first-page":"45","article-title":"Peroxisomes (microbodies) in cell pathology","volume":"26","author":"Goldfischer S.","year":"1984","journal-title":"Int. Rev. Exp. 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J. A. Wiemer E. A. C. Brul S. Schutgens R. B. H. van denBosch H.andTager J. M.Prenatal diagnosis of Zellweger syndrome via a method directly visualizing peroxisomes in chorionic villus fibroblasts and amniocytes.26th SSIEM Annual Symposium 1988d Abstract p.163.","DOI":"10.1007\/978-94-009-1069-0_34"},{"key":"e_1_2_1_79_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(88)90203-1"},{"key":"e_1_2_1_80_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113956"},{"key":"e_1_2_1_81_1","first-page":"204","volume-title":"The Metabolic Basis of Inherited Disease","author":"Williams H. 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