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 …

Urea cycle disorders (UCDs) are inborn errors of metabolism of the nitrogen detoxification
pathway and encompass six principal enzymatic deficiencies. The aging of UCD patients …

Urea cycle defects (UCDs) are severe inherited metabolic diseases with high unmet needs
which present a permanent risk of hyperammonaemic decompensation and subsequent …

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 …

To evaluate the incidence, disease spectrum, and genetic characteristics of inherited
metabolic disorders (IMDs) of newborns in Quanzhou area, China. We analyze the …

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 …

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 …

Background To improve our understanding of urea cycle disorders (UCDs) prospectively
followed by two North American (NA) and European (EU) patient cohorts. Aims Description …

Abstract The Urea Cycle Disorders Consortium (UCDC) and the European registry and
network for Intoxication type Metabolic Diseases (E‐IMD) are the worldwide largest …

The ornithine transcarbamylase (OTC) gene is on the X chromosome and its product
catalyzes the formation of citrulline from ornithine and carbamylphosphate in the urea cycle …