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

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 describe...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Nettesheim, Susanne, Kölker, Stefan, Karall, Daniela, Häberle, Johannes, Posset, Roland, Hoffmann, Georg F., Heinrich, Beate, Gleich, Florian, Garbade, Sven F.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5472961/
https://ncbi.nlm.nih.gov/pubmed/28619060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0661-x
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