Nature's catalysts are specifically evolved to carry out efficient and selective reactions.
Recent developments in biotechnology have allowed the rapid optimization of existing …

Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to
mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures …

Abstract Background Niemann–Pick type C (NP-C) is a rare progressive neurodegenerative
lipid storage disorder with heterogeneous clinical presentation and challenging diagnostic …

Deficiency of antiquitin (ATQ), an enzyme involved in lysine degradation, is the major cause
of vitamin B6‐dependent epilepsy. Accumulation of the potentially neurotoxic α‐aminoadipic …

While proteomic techniques allow the identification and relative quantification of thousands
of proteins in a single run, methods for absolute quantification remain laborious. In this …

Population-based data suggest that high intake of omega-3 (n-3) polyunsaturated fatty acids
(PUFA) may be beneficial in a variety of health conditions. It is likely that mainly those …

Methylmalonic aciduria (MMAuria), caused by deficiency of methylmalonyl-CoA mutase
(MUT), usually presents in the newborn period with failure to thrive and metabolic crisis …

Clinical metabolomics has emerged as a powerful tool to study human metabolism in health
and disease. Comparative statistical analysis of untargeted metabolic profiles can reveal …

Background Recent decades have unravelled the molecular background of a number of
inborn errors of metabolism (IEM) causing vitamin B6‐dependent epilepsy. As these defects …

In this work, the reversible chain transfer to Al in ethene polymerization catalyzed by Cp*
2ZrCl2/MAO was studied via comparison of the polymerization in the presence and absence …