Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

Abstract Background Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease and early death. The study aims to provide epidemiologic data and to d...

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Bibliographic Details
Main Authors: Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, Beate Heinrich, Florian Gleich, Sven F. Garbade, On behalf of Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IMD); Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (ESPED); Austrian Metabolic Group; Swiss Paediatric Surveillance Unit (SPSU)
Format: Article
Language:English
Published: BMC 2017-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Urea cycle disorder(s)
Hyperammonemia
Incidence
Mortality
Newborn screening
Outcome
Online Access:http://link.springer.com/article/10.1186/s13023-017-0661-x

Internet

http://link.springer.com/article/10.1186/s13023-017-0661-x

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