Rare diseases, such as inherited metabolic diseases, have been identified as a health
priority within the European Union more than 20 years ago and have become an integral …

Background This study provides a general overview on liver and/or kidney transplantation in
patients with an amino and organic acid‐related disorder (AOA) with the aim to investigate …

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

COVID-19 is a severe disease in humans, as highlighted by the current global pandemic.
Several studies about the metabolome of COVID-19 patients have revealed metabolic …

Urea cycle disorders (UCDs) are inherited metabolic diseases causing hyperammonemia by
defects in urea cycle enzymes or transporters. Liver transplantation (LT) currently is the only …

Ornithine transcarbamylase (OTC) deficiency can occur as a severe neonatal-onset disease
in males (but rarely in females) and as a post-neonatal-onset (also known as" late-onset" or …

The innate immune system constitutes the first line of defense against invading pathogens,
regulating the normal microbiota and contributes to homeostasis. Today we have obtained …

Since its discovery as a genome editing tool, the clustered regularly interspaced short
palindromic repeats and CRISPR-associated protein 9 (CRISPR/Cas9) system has opened …

Nitric oxide (NO) is a critical signaling molecule that has been implicated in the
pathogenesis of neurocognitive diseases. Both excessive and insufficient NO production …

Abstract Objective Citrullinemia type 1 (CTLN1) is an inherited metabolic disease affecting
the brain which is detectable by newborn screening. The clinical spectrum is highly variable …