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No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome (SLOS) is caused by a genetic deficiency in 7-dehydrocholesterol (7-DHC) reductase (EC 1.3.1.21), the last enzyme of the cholesterol synthetic pathway. In SLOS, plasma cholesterol concentration is reduced and immediate precursor concentration (7-DHC) is elevated. Surprisin...
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| Autores principales: | , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2012
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3404269/ https://ncbi.nlm.nih.gov/pubmed/22391996 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-012-9453-6 |
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