Add to ORKGThe Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by accumulation of cholesta-5,7-dien-3 beta-0l caused by a deficiency of the enzyme desaturating this sterol to cholesterol. In addition to other unusual sterols recently found in plasma of patients with SLOS, namely cholesta-5,8-dien-3 beta-ol and 19-nor-cholesta-5,7,9 (10)-trien-3 beta-ol we have detected a trienol and we describe here its identification as cholesta-5,7,9 (11)-trien-3 beta-ol by GC-MS and by comparison with a synthetic standard. We tested the possibility that the trienol may be formed by radical oxidation of cholesta-5,7-dien-3 beta-ol accumulated in plasma of patients with SLOS because it is known to be formed by decomposition of 7-hyd...
This study reports our experience over the last six years in the diagnosis of Smith-Lemli-Opitz syn...
This study reports our experience over the last six years in the diagnosis of Smith-Lemli-Opitz syn...
Bile acids are the end products of cholesterol metabolism secreted into bile. They are essential for...
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by accumulati...
AbstractSmith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from de...
Sterols and isoprenoids are vital cellular constituents. In studies of their formation, metabolism, ...
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation disorder pos...
In 1993 it was first suggested that the Smith-Lemli-Opitz syndrome (SLOS), described almost 30 years...
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation disorder pos...
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation disorder pos...
In 1993 it was first suggested that the Smith-Lemli-Opitz syndrome (SLOS), described almost 30 years...
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation disorder pos...
In this study the sterol and oxysterol profile of newborn brain from the Dhcr7Δ3-5/T93M mouse model ...
AbstractSmith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from de...
Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholest...
This study reports our experience over the last six years in the diagnosis of Smith-Lemli-Opitz syn...
This study reports our experience over the last six years in the diagnosis of Smith-Lemli-Opitz syn...
Bile acids are the end products of cholesterol metabolism secreted into bile. They are essential for...
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by accumulati...
AbstractSmith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from de...
Sterols and isoprenoids are vital cellular constituents. In studies of their formation, metabolism, ...
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation disorder pos...
In 1993 it was first suggested that the Smith-Lemli-Opitz syndrome (SLOS), described almost 30 years...
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation disorder pos...
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation disorder pos...
In 1993 it was first suggested that the Smith-Lemli-Opitz syndrome (SLOS), described almost 30 years...
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation disorder pos...
In this study the sterol and oxysterol profile of newborn brain from the Dhcr7Δ3-5/T93M mouse model ...
AbstractSmith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from de...
Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholest...
This study reports our experience over the last six years in the diagnosis of Smith-Lemli-Opitz syn...
This study reports our experience over the last six years in the diagnosis of Smith-Lemli-Opitz syn...
Bile acids are the end products of cholesterol metabolism secreted into bile. They are essential for...