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Smith–Lemli–Opitz syndrome with extremely low plasma cholesterol

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Fitzky 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.

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Authors and Affiliations

  1. First Department of Pediatrics, University Children's Hospital, Bratislava, Slovakia

    V. Bzdúch

  2. First Department of Clinical Biochemistry, University Children's Hospital, Bratislava, Slovakia

    D. Behúlová & J. Škodová

  3. Research Institute of Child Health, Brno, Czech Republic

    L. Kozák

  4. Department of Clinical Genetics, Faculty Hospital, Bratislava, Slovakia

    E. Véghová

  5. Department of Biochemistry and Medical Biotechnology, Federico II University, Naples, Italy

    A. Dello Russo & G. Corso

  6. Department of Neonatology, Nové Zámky, Slovakia

    F. Bauer

Authors
  1. V. Bzdúch
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  2. D. Behúlová
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  3. L. Kozák
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  4. J. Škodová
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  5. E. Véghová
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  6. A. Dello Russo
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  7. G. Corso
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  8. F. Bauer
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Bzdúch, V., Behúlová, D., Kozák, L. et al. Smith–Lemli–Opitz syndrome with extremely low plasma cholesterol. J Inherit Metab Dis 23, 638–639 (2000). https://doi.org/10.1023/A:1005646400244

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  • DOI: https://doi.org/10.1023/A:1005646400244

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