{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:24:36Z","timestamp":1772119476111,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,12,2]],"date-time":"2011-12-02T00:00:00Z","timestamp":1322784000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Fetal alcohol spectrum disorder (FASD) is an umbrella term used to describe the craniofacial dysmorphic features, malformations, and disturbances in growth, neurodevelopment and behavior occurring in individuals prenatally exposed to alcohol. Fetal alcohol syndrome (FAS) represents the severe end of this spectrum. Many pathophysiological mechanisms have hitherto been proposed to account for the disrupted growth and morphogenesis seen in FAS. These include impaired cholesterol\u2010modification of the Sonic hedgehog morphogen, retinoic acid deficiency, lipoperoxidative damage due to alcohol\u2010induced reactive oxygen species combined with reduced antioxidant defences, and malfunctioning cell adhesion molecules. In this report, we propose a completely novel concept regarding the pathogenesis of FAS. Based on our observation that transferrin isoelectric focusing (TIEF) \u2013 the most widely used screening tool for congenital disorders of glycosylation (CDG) \u2013 was transiently abnormal in a newborn with FAS and a confirmed maternal history of gestational alcohol abuse, we came to believe that FAS exemplifies a congenital disorder of glycosylation secondary to alcohol\u2010inflicted disruption of (N\u2010linked) protein glycosylation. Various pieces of evidence were found in the literature to substantiate this hypothesis. This observation implies, among others, that one might need to consider the possibility of maternal alcohol consumption in newborns with transient glycosylation abnormalities. We also present an integrated pathophysiological model of FAS, which incorporates all existing theories mentioned above as well as our novel concept. This model highlights the pivotal role of disrupted isoprenoid metabolism in the origination of FAS.<\/jats:p>","DOI":"10.1007\/s10545-011-9425-2","type":"journal-article","created":{"date-parts":[[2011,12,2]],"date-time":"2011-12-02T16:17:20Z","timestamp":1322842640000},"page":"399-405","source":"Crossref","is-referenced-by-count":17,"title":["Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model"],"prefix":"10.1002","volume":"35","author":[{"given":"M.","family":"Binkhorst","sequence":"first","affiliation":[{"name":"Department of Pediatrics Radboud University Nijmegen Medical Centre Nijmegen The Netherlands"},{"name":"Department of Pediatrics Hieronymus Bosch Hospital \u2018s\u2010Hertogenbosch The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. B.","family":"Wortmann","sequence":"additional","affiliation":[{"name":"Institute for Genetic and Metabolic Disease (IGMD), Department of Pediatrics Radboud University Nijmegen Medical Centre Nijmegen The Netherlands"},{"name":"Department of Pediatrics Radboud University Nijmegen Medical Centre Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Funke","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Obstetrics and Gynecology University of Pecs Pecs Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Kozicz","sequence":"additional","affiliation":[{"name":"Department of Cellular Animal Physiology at the Donders Centre of Neuroscience Radboud University Nijmegen Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. A.","family":"Wevers","sequence":"additional","affiliation":[{"name":"Institute for Genetic and Metabolic Disease (IGMD), Department of Pediatrics Radboud University Nijmegen Medical Centre Nijmegen The Netherlands"},{"name":"Laboratory of Genetic Endocrine and Metabolic Diseases at the Department of Laboratory Medicine Radboud University Nijmegen Medical Centre Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Morava","sequence":"additional","affiliation":[{"name":"Institute for Genetic and Metabolic Disease (IGMD), Department of Pediatrics Radboud University Nijmegen Medical Centre Nijmegen The Netherlands"},{"name":"Department of Pediatrics Radboud University Nijmegen Medical Centre Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,12,2]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"164","article-title":"Eye abnormalities in fetal alcohol syndrome","volume":"78","author":"Abdelrahman A","year":"2009","journal-title":"Ulster Med J"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9325-5"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-813X(01)00034-1"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.1040302"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0892-0362(02)00324-0"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1530-0277.1998.tb04318.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1096\/fasebj.10.9.8801166"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30386"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwg016"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/0960327107078412"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)91092-1"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.001420"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1995.1656"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.3700516"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30239"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2000.0750954.x"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2011.02.011"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.260"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201947"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181b26daf"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq261"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1530-0277.2006.00212.x"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2002.01167.x"},{"key":"e_1_2_7_25_1","first-page":"592","article-title":"Fetal alcohol syndrome: an unrecognized cause of intellectual handicap and problem behavior in the Netherlands","volume":"140","author":"Van Balkom ID","year":"1996","journal-title":"Ned Tijdschr Geneeskd"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1530-0277.2006.00208.x"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9425-2","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-011-9425-2","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9425-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T16:40:13Z","timestamp":1694796013000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-011-9425-2"}},"subtitle":["\u201cWhen the wine goes in, strange things come out\u201d\n                    <i>\u2013 S.T. 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