Metabolomics deals with the whole ensemble of metabolites (the metabolome). As one of
the‐omic sciences, it relates to biology, physiology, pathology and medicine; but metabolites …

Cystathionine-β-synthase (CBS), the first (and rate-limiting) enzyme in the transsulfuration
pathway, is an important mammalian enzyme in health and disease. Its biochemical …

Objective Basic parameters commonly used to describe genomes including length, weight
and relative guanine-cytosine (GC) content are widely cited in absence of a primary source …

Aneuploidy, a genomic alternation characterized by deviations in the copy number of
chromosomes, affects organisms from early development through to aging. Although it is a …

Objective A well-known limit of genome browsers is that the large amount of genome and
gene data is not organized in the form of a searchable database, hampering full …

Down syndrome (DS) is associated with significant perturbances in mitochondrial function.
Here we tested the hypothesis that the suppression of mitochondrial electron transport in DS …

NMR measures a relatively small portion of the human metabolome, which roughly
corresponds to all free small molecules present in concentrations≥ 1 μM. However, the …

Although developmental delays affect learning, language, and behavior, some evidence
suggests the presence of disturbances in metabolism are associated with psychiatric …

Down syndrome is the most common chromosomal disorder, associated with moderate to
severe intellectual disability. While life expectancy of Down syndrome population has greatly …

Abstract Trisomy 21 (T21) causes Down syndrome (DS), affecting immune and neurological
function by ill-defined mechanisms. Here we report a large metabolomics study of plasma …