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Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome
INTRODUCTION: Smith-Lemli-Opitz Syndrome (SLOS) is a malformation syndrome inherited in an autosomal recessive fashion. It is due to a metabolic defect in the conversion of 7-dehydrocholesterol to cholesterol, which leads to an accumulation of 7-dehydrocholesterol and frequently a deficiency of chol...
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| Pubblicato in: | Expert Opin Orphan Drugs |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4343216/ https://ncbi.nlm.nih.gov/pubmed/25734025 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1517/21678707.2015.1014472 |
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