The organic cation transporters (OCTs) OCT1, OCT2, OCT3, novel OCT (OCTN) 1, OCTN2,
multidrug and toxin exclusion (MATE) 1, and MATE kidney-specific 2 are polyspecific …

The human solute carrier 22 family (SLC22), also termed the organic ion transporter family,
consists of 28 distinct multi-membrane spanning proteins, which phylogenetically cluster …

Arrhythmogenic cardiomyopathy (ACM) is an arrhythmogenic disorder of the myocardium
not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a …

Individual cells and epithelia control the chemical exchange with the surrounding
environment by the fine-tuned expression, localization, and function of an array of …

Genetic variants in SLC22A5, encoding the membrane carnitine transporter OCTN2, cause
the rare metabolic disorder Carnitine Transporter Deficiency (CTD). CTD is potentially lethal …

Inflammation is a physiological condition characterized by a complex interplay between
different cells handled by metabolites and specific inflammatory-related molecules. In some …

A broad spectrum of signs and symptoms has been attributed to primary carnitine deficiency
(PCD) since its first description in 1973. Advances in diagnostic procedures have improved …

In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from
screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) …

Gliomas are the most common primary malignant brain tumor in adults, but current treatment
for glioblastoma multiforme (GBM) is insufficient. Even though glucose is the primary …

Analytical and therapeutic innovations led to a continuous but variable extension of newborn
screening (NBS) programmes worldwide. Every extension requires a careful evaluation of …