Ontology highlight
ABSTRACT:
SUBMITTER: Unsinn C
PROVIDER: S-EPMC4991093 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Unsinn Caroline C Das Anibh A Valayannopoulos Vassili V Thimm Eva E Beblo Skadi S Burlina Alberto A Konstantopoulou Vassiliki V Mayorandan Sebene S de Lonlay Pascale P Rennecke Jörg J Derbinski Jens J Hoffmann Georg F GF Häberle Johannes J
Orphanet journal of rare diseases 20160819 1
<h4>Background</h4>Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neonatal onset patients generally have a severe defect of urea cycle function and their survival and outcome prognoses are often limited. To understand better the current situation of neonatal onset in UCDs, we have performed a multicentre, retrospective, non-interventional ca ...[more]