Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
about
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland.Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatmentFunctional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.Severe hyperammonemia in late-onset ornithine transcarbamylase deficiency triggered by steroid administration.Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective studyClinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience.Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.Liver involvement in urea cycle disorders: a review of the literature.Citrulline for urea cycle disorders in Japan.Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
P2860
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P2860
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 19 June 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
Cross-sectional observational ...... classical urea cycle disorders
@en
Cross-sectional observational ...... lassical urea cycle disorders.
@nl
type
label
Cross-sectional observational ...... classical urea cycle disorders
@en
Cross-sectional observational ...... lassical urea cycle disorders.
@nl
prefLabel
Cross-sectional observational ...... classical urea cycle disorders
@en
Cross-sectional observational ...... lassical urea cycle disorders.
@nl
P2093
P2860
P50
P1476
Cross-sectional observational ...... classical urea cycle disorders
@en
P2093
Amelie Lotz-Havla
Barbara Plecko
Christian Staufner
Corinne M Rüegger
Daniela Karall
Dorothea Möslinger
Esther M Glahn
Frank Rutsch
Frits A Wijburg
P2860
P2888
P356
10.1007/S10545-013-9624-0
P50
P577
2013-06-19T00:00:00Z