Genetic disorders of cholesterol biosynthesis in mice and humans
NA Nwokoro, CA Wassif, FD Porter - Molecular Genetics and Metabolism, 2001 - Elsevier
Over the past few years, the number of identified inborn errors of cholesterol biosynthesis
has increased significantly. The first inborn error of cholesterol biosynthesis to be
characterized, in the mid 1980s, was mevalonic aciduria. In 1993, Irons et al.(1)(M. Irons, ER
Elias, G. Salen, GS Tint, and AK Batta, Lancet 341: 1414, 1993) reported that Smith-Lemli-
Opitz syndrome, a classic autosomal recessive malformation syndrome, was due to an
inborn error of cholesterol biosynthesis. This was the first inborn error of postsqualene …
has increased significantly. The first inborn error of cholesterol biosynthesis to be
characterized, in the mid 1980s, was mevalonic aciduria. In 1993, Irons et al.(1)(M. Irons, ER
Elias, G. Salen, GS Tint, and AK Batta, Lancet 341: 1414, 1993) reported that Smith-Lemli-
Opitz syndrome, a classic autosomal recessive malformation syndrome, was due to an
inborn error of cholesterol biosynthesis. This was the first inborn error of postsqualene …
