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Highly sensitive analysis of sterol profiles in human serum by LC-ESI-MS/MS
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Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome)
Josep Marcos et al.
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Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lenili-Opitz syndrome (SLOS)
Cedric H. L. Shackleton et al.
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Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis
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Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)
D. Haas et al.
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Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice
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7-Dehydrocholesterol enhances ultraviolet A-induced oxidative stress in keratinocytes: Roles of NADPH oxidase, mitochondria, and lipid rafts
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Elaine Tierney et al.
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The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome
Darryn M. Sikora et al.
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Colin F. Chignell et al.
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FAA Langius et al.
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GL Vega et al.
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Simvastatin treatment in the SLO syndrome:: A safe approach?
L Starck et al.
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JN Lee et al.
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