Clustered regularly interspaced short palindromic repeats (CRISPR) is a promising
innovative technology for genomic editing that offers scientists the chance to edit DNA …

Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …

Disclaimer: These recommendations are designed primarily as an educational resource for
medical geneticists and other healthcare providers to help them provide quality medical …

We describe a novel, two-nanoparticle mRNA delivery system and show that it is highly
effective as a means of intracellular enzyme replacement therapy (i-ERT) using a murine …

Ammonia is a neurotoxic compound which is detoxified through liver enzymes from urea
cycle. Several inherited or acquired conditions can elevate ammonia concentrations in …

Rare diseases are infrequent, but together they affect up to 6–10% of the world's population,
mainly children. Patients require precise doses and strict adherence to avoid metabolic or …

Ornithine transcarbamylase (OTC; EC 2.1. 3.3) is a ubiquitous enzyme found in almost all
organisms, including vertebrates, microorganisms, and plants. Anabolic, mostly trimeric …

Abstract Introduction Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency (MCADD) is the
most common inherited metabolic disorder of β‐oxidation. Patients with MCADD present …

Recent clinical successes have intensified interest in using adeno-associated virus (AAV)
vectors for therapeutic gene delivery. The liver is a key clinical target, given its critical …

Urea cycle disorders (UCD) are a group of rare inherited metabolic conditions of amino acid
catabolism caused by an enzyme deficiency within the hepatic ammonia detoxification …