Cholesterol homeostasis is critical for normal growth and development. In addition to being
a major membrane lipid, cholesterol has multiple biological functions. These roles include …

Twin and family studies in autistic disorders (AD) have elucidated a high heritability of the
narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially …

The thoroughly updated Fourth Edition of this acclaimed reference describes and illustrates
the full range of pediatric disorders diagnosable by modern neuroimaging. This edition …

The broad variation in phenotypes and severities within autism spectrum disorders suggests
the involvement of multiple predisposing factors, interacting in complex ways with normal …

The integrity of central and peripheral nervous system myelin is affected in numerous lipid
metabolism disorders. This vulnerability was so far mostly attributed to the extraordinarily …

The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital
malformation syndromes. The recent discovery of the biochemical cause of SLOS and the …

Autism is a heterogeneous disorder that can reveal a specific genetic disease. This paper
describes several genetic diseases consistently associated with autism (fragile X, tuberous …

The largest pool of free cholesterol in mammals resides in myelin membranes. Myelin
facilitates rapid saltatory impulse propagation by electrical insulation of axons. This function …

Abstract Smith–Lemli–Opitz syndrome (SLOS) is a congenital multiple anomaly/intellectual
disability syndrome caused by a deficiency of cholesterol synthesis resulting from a …

Abstract Objective To develop a Canadian consensus document on maternal screening for
fetal aneuploidy (eg, Down syndrome and trisomy 18) in singleton pregnancies. Options …