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Treatment of Smith-Lemli-Opitz Syndrome and Other Sterol Disorders
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. This defect causes low or low-normal plasma cholesterol levels and increased 7- and 8-dehydrocholesterol (DHC) l...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2012
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3890258/ https://ncbi.nlm.nih.gov/pubmed/23042642 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31347 |
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