In 2012, we published guidelines summarizing and evaluating late 2011 evidence for
diagnosis and therapy of urea cycle disorders (UCDs). With 1: 35 000 estimated incidence …

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

Inborn errors of metabolism (IEMs) are a large class of genetic disorders characterized by
disruption of cellular biochemical functions. Although individual IEMs are rare, collectively …

Hepatic encephalopathy (HE) is one of the most important complications of cirrhosis and
portal hypertension. Although the etiology is incompletely understood, it has been linked to …

Glycerol phenylbutyrate (GPB) lowers ammonia by providing an alternate pathway to urea
for waste nitrogen excretion in the form of phenylacetyl glutamine, which is excreted in urine …

Hepatic encephalopathy (HE) is a potentially reversible neurocognitive complication of
cirrhosis. It has been reported in at least 30% of patients with cirrhosis and imposes a …

Purpose: The purpose of this study was to compare performance metrics of postanalytical
interpretive tools of the Region 4 Stork collaborative project to the actual outcome based on …

Ammonia is a neurotoxic agent that is primarily generated in the intestine and detoxified in
the liver. Toxic increases in systemic ammonia levels predominantly result from an inherited …

Background. Regenerative medicine using stem cell technology is an emerging field that is
currently tested for inborn and acquired liver diseases. Objective. This phase I/II prospective …

Objective Individuals with urea cycle disorders (UCDs) often present with intellectual and
developmental disabilities. The major aim of this study was to evaluate the impact of …