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• W140754564 abstract "Journal of Inherited Metabolic DiseaseVolume 23, Issue 6 p. 638-639 Article Smith–Lemli–Opitz syndrome with extremely low plasma cholesterol V. Bzdúch, V. Bzdúch First Department of Pediatrics, University Children's Hospital, Bratislava, SlovakiaSearch for more papers by this authorD. Behúlová, D. Behúlová First Department of Clinical Biochemistry, University Children's Hospital, Bratislava, SlovakiaSearch for more papers by this authorL. Kozák, L. Kozák Research Institute of Child Health, Brno, Czech RepublicSearch for more papers by this authorJ. Škodová, J. Škodová First Department of Clinical Biochemistry, University Children's Hospital, Bratislava, SlovakiaSearch for more papers by this authorE. Véghová, E. Véghová Department of Clinical Genetics, Faculty Hospital, Bratislava, SlovakiaSearch for more papers by this authorA. Dello Russo, A. Dello Russo Department of Biochemistry and Medical Biotechnology, Federico II University, Naples, ItalySearch for more papers by this authorG. Corso, G. Corso Department of Biochemistry and Medical Biotechnology, Federico II University, Naples, ItalySearch for more papers by this authorF. Bauer, F. Bauer Department of Neonatology, Nové Zámky, SlovakiaSearch for more papers by this author V. Bzdúch, V. Bzdúch First Department of Pediatrics, University Children's Hospital, Bratislava, SlovakiaSearch for more papers by this authorD. Behúlová, D. Behúlová First Department of Clinical Biochemistry, University Children's Hospital, Bratislava, SlovakiaSearch for more papers by this authorL. Kozák, L. Kozák Research Institute of Child Health, Brno, Czech RepublicSearch for more papers by this authorJ. Škodová, J. Škodová First Department of Clinical Biochemistry, University Children's Hospital, Bratislava, SlovakiaSearch for more papers by this authorE. Véghová, E. Véghová Department of Clinical Genetics, Faculty Hospital, Bratislava, SlovakiaSearch for more papers by this authorA. Dello Russo, A. Dello Russo Department of Biochemistry and Medical Biotechnology, Federico II University, Naples, ItalySearch for more papers by this authorG. Corso, G. Corso Department of Biochemistry and Medical Biotechnology, Federico II University, Naples, ItalySearch for more papers by this authorF. Bauer, F. Bauer Department of Neonatology, Nové Zámky, SlovakiaSearch for more papers by this author First published: 01 September 2000 https://doi.org/10.1023/A:1005646400244Citations: 1AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES 1Fitzky BU, Witsch-Baumgartner M, Erdel M et al (1998) Mutations in the delta-7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci USA, 95: 8181–8186. 2Jira PE, deJong JGN, Janssen-Ziljilstra FSM, Wendel U, Wevers RA (1997) Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome. Clin Chem, 4: 29–133. 3Koza¨k L, Francova¨ H, Hrabincova¨ E et al (2000) Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families. J Inherit Metab Dis, 23: 409–412. 4Tint GS, Salen G, Batta AK et al (1995) Correlation of severity and outcome with plasma sterol levels in variants of Smith-Lemli-Opitz syndrome. J Pediatr, 127: 82–87. Citing Literature Volume23, Issue6September 2000Pages 638-639 ReferencesRelatedInformation" @default.
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• W140754564 title "Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol" @default.
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