|1.||Chondrodysplasia Punctata (Stippled Epiphyses)
|2.||Pervasive Child Development Disorders
|3.||Retinitis Pigmentosa (Pigmentary Retinopathy)
|1.||Porter, Forbes D: 29 articles (10/2013 - 04/2002)|
|2.||Steiner, Robert D: 21 articles (10/2014 - 04/2002)|
|3.||Porter, Ned A: 15 articles (06/2015 - 02/2010)|
|4.||Wassif, Christopher A: 15 articles (11/2010 - 04/2002)|
|5.||Xu, Libin: 14 articles (06/2015 - 02/2010)|
|6.||Merkens, Louise S: 12 articles (10/2014 - 06/2004)|
|7.||Korade, Zeljka: 11 articles (06/2015 - 12/2008)|
|8.||Fliesler, Steven J: 11 articles (03/2013 - 02/2004)|
|9.||Connor, William E: 11 articles (09/2012 - 04/2002)|
|10.||Nowaczyk, Małgorzata J M: 9 articles (11/2012 - 02/2002)|
12/01/2005 - "The ability to manipulate the mass of maternal cholesterol that crosses to the fetus could result in a dramatic improvement in the development of fetuses that lack the ability to synthesize cholesterol, such as those with Smith-Lemli-Opitz syndrome. "
01/01/2013 - "The importance of maternal cholesterol as an exogenous cholesterol source for the growing embryo was first reported in studies of Smith-Lemli-Opitz syndrome. "
12/01/2011 - "This study reports our experience over the last six years in the diagnosis of Smith-Lemli-Opitz syndrome and other inborn errors of cholesterol biosynthesis. "
11/01/2010 - "Our recent studies have focused on cholesterol synthesis in mouse models for 7-dehydrosterolreductase (DHCR7) deficiency, also known as Smith-Lemli-Opitz syndrome. "
06/01/2008 - "We had the opportunity to study for the first time the ability of HDL and plasma from a fetus with the Smith-Lemli-Opitz syndrome (SLOS) to efflux cholesterol from trophoblasts. "
07/27/1999 - "The discovery of the biochemical defect causing Smith-Lemli-Opitz syndrome has resulted in the development of a diagnostic test and a potentially beneficial treatment (dietary cholesterol supplementation). "
01/01/2010 - "Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome."
11/01/2004 - "Dietary cholesterol increased total sterols in plasma, LDL, and HDL in children with Smith-Lemli-Opitz syndrome. "
11/01/2004 - "Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome."
05/01/1994 - "Smith-Lemli-Opitz syndrome, marked with extremely low serum cholesterol, may serve as a human model for the evaluation of absorption and metabolism of dietary cholesterol."
|3.||Simvastatin (Zocor)FDA LinkGeneric
03/15/2006 - "Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy."
01/01/2010 - "A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement."
06/01/2007 - "Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)."
06/01/2005 - "Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts."
06/01/2009 - "Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome."
02/01/2014 - "A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome."
04/01/2013 - "Recent studies suggest that 7-dehydrocholesterol (7-DHC)-derived oxysterols play important roles in the pathophysiology of Smith-Lemli-Opitz syndrome (SLOS), a metabolic disorder that is caused by defective 3β-hydroxysterol-Δ(7)-reductase (DHCR7). "
03/01/2014 - "These 7-DHC metabolites were detected in serum of a patient with Smith-Lemli-Opitz syndrome. "
09/01/2013 - "Screening for Smith-Lemli-Opitz Syndrome (SLOS) using elevated 7-dehydrocholesterol (7DHC) as a marker is sensitive, but not always specific. "
01/01/2013 - "7-Dehydrocholesterol (7-DHC) accumulates in tissues and fluids of patients with Smith-Lemli-Opitz syndrome (SLOS), which is caused by mutations in the gene encoding 3β-hydroxysterol-Δ(7)-reductase (DHCR7). "
08/01/2003 - "27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway."
01/25/2002 - "Smith-Lemli-Opitz syndrome (SLOS) patients have increased 7- and 8-dehydrocholesterol (DHC) concentrations. "
04/01/1995 - "Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome."
11/22/2002 - "Soon after the discovery of reduced cholesterol synthesis in the Smith-Lemli-Opitz syndrome (SLOS), several trials with dietary supplementation were initiated with the aim of increasing cholesterol and reducing the de novo synthesis and accumulation of 7- and 8-dehydrocholesterol (DHC). "
01/01/2013 - "Smith-Lemli-Opitz syndrome (SLOS) is caused by mutations in the gene encoding 3β-hydroxysterol-Δ(7)-reductase and as a result of this defect, 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) accumulate in the fluids and tissues of patients with this syndrome. "
06/01/2015 - "For demonstrative purposes, we analyzed the causative gene for the disorder Smith-Lemli-Opitz Syndrome (SLOS), the 7-dehydrocholesterol reductase (DHCR7) gene and determined both the carrier frequency for DHCR7 mutations, and predicted an expected incidence of the disorder. "
01/01/2014 - "First results of molecular analysis of the 7-dehydrocholesterol reductase gene in 10 unrelated Czech and Slovak patients with Smith-Lemli-Opitz syndrome were reported by Kozak et al. (2000). "
09/13/2012 - "Since a defect of 7-dehydrocholesterol reductase is associated with Smith-Lemli-Opitz syndrome (SLOS), the potent and selective inhibitors reported here will enable more detailed investigation of the pathogenesis of SLOS."
11/01/2010 - "Smith-Lemli-Opitz syndrome (SLOS) is a metabolic and developmental disorder caused by mutations in the gene encoding the enzyme 7-dehydrocholesterol reductase (Dhcr7). "
08/01/2010 - "Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome resulting from mutations of the 7-dehydrocholesterol reductase (DHCR7) gene. "
08/01/2009 - "The starting-point of the studies was to study pregnancy steroid production by a mouse model for Smith-Lemli-Opitz syndrome, 7-dehydrosterol reductase (DHCR7) deficiency. "
08/01/2012 - "Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of variable presentation caused by the deficiency of the 3β- hydroxycholesterol Δ(7) - reductase. "
02/01/2012 - "The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency. "
08/01/2009 - "Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome."
11/01/2005 - "Smith Lemli Opitz syndrome (SLOS) caused by a deficit of 3beta-hydroxysterol-Delta7 reductase was the first sterol deficit described with multiple malformations. "
10/01/2014 - "Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome."
07/01/2013 - "Analysis by liquid chromatography-mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(Δ3-5/T93M) mouse: a model of Smith-Lemli-Opitz syndrome."
04/01/2010 - "Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome."
11/23/2007 - "These novel results have potential implications in understanding the interaction of membrane sterols with this important neuronal receptor under pathogenic conditions such as the Smith-Lemli-Opitz syndrome."
11/01/2000 - "Origin and metabolic fate of unsaturated sterols relevant to the Smith-Lemli-Opitz syndrome."
07/01/1998 - "Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols."
02/18/2012 - "Stability study of dehydrocholesterols in dried spot of blood from patients with Smith-Lemli-Opitz syndrome, using filter-paper treated with butylated hydroxytoluene."
12/01/2011 - "We also studied the effect of storage on the dehydrocholesterols/cholesterol ratio in plasma and erythrocyte membranes of patients affected by Smith-Lemli-Opitz syndrome stored at -20°C for up to 22 and 20 months, respectively. "
08/01/1999 - "Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7alpha-hydroxylase and 27-hydroxylase activities in rat liver."
|10.||DNA (Deoxyribonucleic Acid)IBA
09/01/1997 - "While the coding region of the gene spans only 2.3 kb, the gene encompasses approximately 1000 kb of DNA at the boundary of the q31.3-q32.1 bands of chromosome 7. This observation is relevant to the study of Smith-Lemli-Opitz syndrome and an autosomal dominant form of retinitis pigmentosa (RP10), since they map to the same region."
12/01/2000 - "Abnormalities of the gastrointestinal tract, the lower extremities, and the face prompted DNA analysis, which found a defect of cholesterol biosynthesis in the form of the Smith-Lemli-Opitz-syndrome, a rare congenital defect. "
03/01/2006 - "A case of term, 5-day-old boy, with low birth weight of 2.4 kg, with Smith-Lemli-Opitz syndrome (SLOS) who was first scheduled for gastrostomy tube placement and later for pylorotomy, is discussed. "
01/01/2013 - "A 12-year-old girl with Smith-Lemli-Opitz syndrome and gastrostomy dependency presented with multiple episodes of coffee ground vomits. "