Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome.
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7-Dehydrocholesterol-derived oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndromeThe Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human FibroblastsComparison of the liquid-ordered bilayer phases containing cholesterol or 7-dehydrocholesterol in modeling Smith-Lemli-Opitz syndromeIn Memoriam: William E. Connor (1921-2009).Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transferMalformation syndromes caused by disorders of cholesterol synthesis.Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolismEndogenous B-ring oxysterols inhibit the Hedgehog component Smoothened in a manner distinct from cyclopamine or side-chain oxysterols.A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.Statins and pregnancy: between supposed risks and theoretical benefits.Treatment of Smith-Lemli-Opitz syndrome and other sterol disordersPathogenesis-based therapies in ichthyoses.Malformation syndromes associated with disorders of sex development.Increasing acetyl-CoA metabolism attenuates injury and alters spinal cord lipid content in mice subjected to experimental autoimmune encephalomyelitis.Hypothesis: the role of sterols in autism spectrum disorder.Hepatic isoprenoid metabolism in a rat model of Smith-Lemli-Opitz Syndrome.Smith-Lemli-Opitz syndrome.Antioxidants: The Missing Key to Improved Therapeutic Intervention in Smith-Lemli-Opitz Syndrome?Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome.An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
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P2860
Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on June 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Effects of dietary cholesterol ...... in Smith-Lemli-Opitz syndrome.
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Effects of dietary cholesterol ...... in Smith-Lemli-Opitz syndrome.
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type
label
Effects of dietary cholesterol ...... in Smith-Lemli-Opitz syndrome.
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Effects of dietary cholesterol ...... in Smith-Lemli-Opitz syndrome.
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prefLabel
Effects of dietary cholesterol ...... in Smith-Lemli-Opitz syndrome.
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Effects of dietary cholesterol ...... in Smith-Lemli-Opitz syndrome.
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P2093
P2860
P1433
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Effects of dietary cholesterol ...... in Smith-Lemli-Opitz syndrome
@en
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Jean-Baptiste Roullet
Jennifer A Penfield
Julia M Jordan
Louise S Merkens
William E Connor
Yen-Ming Chan
P2860
P2888
P304
P356
10.1203/PDR.0B013E31819EA4EB
P407
P577
2009-06-01T00:00:00Z
P6179
1051851511