Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Item
http://www.wikidata.org/entity/Q37469825
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

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Item
http://www.wikidata.org/entity/Q37469825
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
@da
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
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Cross-sectional observational ...... classical urea cycle disorders
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932