The organic acidurias d-2-hydroxyglutaric aciduria (D-2-HGA), l-2-hydroxyglutaric aciduria
(L-2-HGA), and combined d, l-2-hydroxyglutaric aciduria (D, L-2-HGA) cause neurological …

The human gastrointestinal tract is home to an incredibly dense population of microbes.
These microbes employ unique strategies to capture energy in this largely anaerobic …

Objective The consumption of an agrarian diet is associated with a reduced risk for many
diseases associated with a 'Westernised'lifestyle. Studies suggest that diet affects the gut …

We report the identification of a new type of histone mark, lysine 2-hydroxyisobutyrylation
(Khib), and identify the mark at 63 human and mouse histone Khib sites, including 27 unique …

Peroxisome proliferator-activated receptor-α (PPARα) agonists such as fenofibrate are used
to treat dyslipidemia. Although fenofibrate is considered safe in humans, it is known to cause …

The" classical" organic anion secretory pathway of the renal proximal tubule is critical for the
renal excretion of the prototypic organic anion, para-aminohippurate, as well as of a large …

Organic acidurias are inherited metabolic diseases due to the deficiency of an enzyme or a
transport protein involved in one of the several cellular metabolic pathways devoted to the …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

The spectrum of propionic acidemia (PA) ranges from neonatal onset to late-diagnosed
disease. Neonatal-onset PA, the most common form, is characterized by a healthy newborn …

Fatty acid oxidation (FAO) is a key bioenergetic pathway often dysregulated in diseases. The
current knowledge on FAO regulators in mammalian cells is limited and sometimes …