Background Neuroblastoma, the most common extracranial solid tumor that occurs in early
childhood, can be identified in the preclinical stages by the detection of catecholamines in …

Alternative pathway therapy is currently an accepted treatment approach for inborn errors of
the urea cycle. This involves the long-term use of oral sodium phenylbutyrate, arginine …

RAPIDLY growing tumor cells depend on a high rate of pyrimidine synthesis for the
generation of RNA and DNA. Fluorouracil is a pyrimidine-base analogue that acts as an …

Inherited urea cycle disorders comprise eight disorders (UCD), each caused by a deficiency
of one of the proteins that is essential for ureagenesis. We report on a cross-sectional …

Background Neuroblastoma has many characteristics which suggest that preclinical detection
might improve outcome. The Quebec Neuroblastoma Screening Project was initiated to …

The Urea Cycle Disorders Consortium (UCDC) is a member of the NIH funded Rare Diseases
Clinical Research Network and is performing a longitudinal study of 8 urea cycle disorders …

Ornithine transcarbamylase (OTC) deficiency is the most common inherited disorder of the
urea cycle and is transmitted as an X‐linked trait. Defects in the OTC gene cause a block in …

N-Acetylglutamate (NAG) fulfils distinct biological roles in lower and higher organisms. In
prokaryotes, lower eukaryotes and plants it is the first intermediate in the biosynthesis of …

Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half
of all inherited disorders of the urea cycle. OTC is one of the enzymes common to both the …

Ornithine transcarbamylase (OTC) deficiency, a partially dominant X‐linked disorder, is the
most common inherited defect of the urea cycle. Previous reports suggested a variable …