Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

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I NBORN E RRORS OF S TEROL B IOSYNTHESIS

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Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome

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High doses of simvastatin, pravastatin, and cholesterol reduce brain cholesterol synthesis in guinea pigs

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An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome

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Malformation syndromes due to inborn errors of cholesterol synthesis

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Reduced cholesterol levels impair Smoothened activation in Smith–Lemli–Opitz syndrome

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3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome

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DHCEO accumulation is a critical mediator of pathophysiology in a Smith–Lemli–Opitz syndrome model

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Smith‐Lemli‐Opitz Syndrome and the DHCR7 Gene

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Mutations in the human DHCR7 gene

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Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome

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Transport of maternal cholesterol to the fetus is affected by maternal plasma cholesterol concentrations in the Golden Syrian hamster

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Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update

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(2000) · doi:10.1002/1098-2779(2000)6:2

Genetic Disorders of Cholesterol Biosynthesis in Mice and Humans

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CHOLESTEROL AND DEVELOPMENT: THE RSH ("SMITH-LEMLI-OPITZ") SYNDROME AND RELATED CONDITIONS

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Abnormal serotonergic development in a mouse model for the Smith–Lemli–Opitz syndrome: implications for autism

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Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

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RSH/Smith-Lemli-Opitz Syndrome: Mutations and Metabolic Morphogenesis

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An updated look at the analysis of unsaturated C27 sterols by gas chromatography and mass spectrometry

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Antenatal manifestations of Smith‐Lemli‐Opitz (RSH) syndrome: A retrospective survey of 30 cases

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Retinal Degeneration in a Rodent Model of Smith-Lemli-Opitz Syndrome

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A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome

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Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith–Lemli–Opitz syndrome fibroblasts

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