Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland.
about
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.Liver involvement in urea cycle disorders: a review of the literature.Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase
P2860
Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland.
description
2017 nî lūn-bûn
@nan
2017 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2017 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
name
Incidence, disease onset and s ...... many, Austria and Switzerland.
@ast
Incidence, disease onset and s ...... many, Austria and Switzerland.
@en
type
label
Incidence, disease onset and s ...... many, Austria and Switzerland.
@ast
Incidence, disease onset and s ...... many, Austria and Switzerland.
@en
prefLabel
Incidence, disease onset and s ...... many, Austria and Switzerland.
@ast
Incidence, disease onset and s ...... many, Austria and Switzerland.
@en
P2093
P2860
P1476
Incidence, disease onset and s ...... many, Austria and Switzerland.
@en
P2093
Arbeitsgemeinschaft für Pädiat ...... atric Surveillance Unit (SPSU)
Beate Heinrich
Daniela Karall
Florian Gleich
Georg F Hoffmann
Johannes Häberle
Roland Posset
Stefan Kölker
Susanne Nettesheim
Sven F Garbade
P2860
P2888
P356
10.1186/S13023-017-0661-X
P577
2017-06-15T00:00:00Z
P6179
1086045576