A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR 7 gene and effects of therapy with simvastatin and cholesterol supplement
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| Published in | European journal of pediatrics Vol. 169; no. 1; pp. 121 - 123 |
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| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Heidelberg
Springer
2010
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| Subjects | |
| Online Access | Get full text |
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| Author | SZABO, Gabriella P KOZAK, Libor BLAHAKOVA, Ivona BALOGH, Erzsébet OLAH, Anna V OLAH, Eva NAGY, Andrea |
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| Author_xml | – sequence: 1 givenname: Gabriella P surname: SZABO fullname: SZABO, Gabriella P organization: Pediatrics Department, Medical and Health Science Center, Debrecen University, Nagyerdei krt. 98, 4012 Debrecen, Hungary – sequence: 2 givenname: Anna V surname: OLAH fullname: OLAH, Anna V organization: Department of Clinical Biochemistry & Molecular Pathology, Medical and Health Science Center, Debrecen University, Debrecen, Hungary – sequence: 3 givenname: Libor surname: KOZAK fullname: KOZAK, Libor organization: Center of Molecular Biology and Gene Therapy, University Hospital Brno, Brno, Czech Republic – sequence: 4 givenname: Erzsébet surname: BALOGH fullname: BALOGH, Erzsébet organization: Pediatrics Department, Medical and Health Science Center, Debrecen University, Nagyerdei krt. 98, 4012 Debrecen, Hungary – sequence: 5 givenname: Andrea surname: NAGY fullname: NAGY, Andrea organization: Pediatrics Department, Medical and Health Science Center, Debrecen University, Nagyerdei krt. 98, 4012 Debrecen, Hungary – sequence: 6 givenname: Ivona surname: BLAHAKOVA fullname: BLAHAKOVA, Ivona organization: Center of Molecular Biology and Gene Therapy, University Hospital Brno, Brno, Czech Republic – sequence: 7 givenname: Eva surname: OLAH fullname: OLAH, Eva organization: Pediatrics Department, Medical and Health Science Center, Debrecen University, Nagyerdei krt. 98, 4012 Debrecen, Hungary |
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| Keywords | Pediatrics Diseases of the osteoarticular system Lipids Smith-Lemli-Opitz syndrome Hyperlipoproteinemia Lipoprotein Hypocholesterolemic agent Novel mutation Substitution Hypocholesterolemia HMG-CoA reductase inhibitor Genetics Supplementation Dyslipemia Complex syndrome Human Nervous system diseases Enzyme Simvastatin Enzyme inhibitor Metabolic diseases Patient Statin derivative Smith-Lemli-Opitz dwarfism Cholesterol Genetic disease Hypercholesterolemia Treatment Cholesterol substitution Malformation p.G366V Hydroxymethylglutaryl-CoA reductase Digestive diseases Oxidoreductases Mutation Gene therapy Antilipemic agent |
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| PublicationTitle | European journal of pediatrics |
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| SubjectTerms | Biological and medical sciences Disorders of blood lipids. Hyperlipoproteinemia General aspects Medical sciences Metabolic diseases |
| Title | A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR 7 gene and effects of therapy with simvastatin and cholesterol supplement |
| Volume | 169 |
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