Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report

BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic neurodevelopmental disorder caused by the defect in the 7-dehydrocholesterol reductase. This defect leads to the deficiency of cholesterol biosynthesis with accumulation of 7-dehydrocholesterol. Inhibitory factor 1 (IF(1)) is a well-kno...

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Detalles Bibliográficos
Autores principales: Delvecchio, Maurizio, Rapone, Biagio, Simonetti, Simonetta, Fecarotta, Simona, De Carlo, Graziana, Favoino, Elvira, Loverro, Maria Teresa, Romano, Anna Maria Isdraele, Taurino, Federica, Di Naro, Edoardo, Gnoni, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7594264/
https://www.ncbi.nlm.nih.gov/pubmed/33115520
http://dx.doi.org/10.1186/s13052-020-00924-2

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