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Partial Rescue of Retinal Function and Sterol Steady-State in a Rat Model of Smith-Lemli-Opitz Syndrome

The Smith-Lemli-Opitz syndrome (SLOS) is the first-described in a growing family of hereditary defects in cholesterol biosynthesis, and presents with a spectrum of serious abnormalities, including multiple dysmorphologies, failure to thrive, cognitive and behavioral impairments, and retinopathy. Usi...

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Autores principales: FLIESLER, STEVEN J., VAUGHAN, DANA K., JENEWEIN, ERIN C., RICHARDS, MICHAEL J., NAGEL, BARBARA A., PEACHEY, NEAL S.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2007
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2072818/
https://ncbi.nlm.nih.gov/pubmed/17314682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1203/pdr.0b013e318030d1cf
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