about
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation UpdateIncidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland.Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report.Psychiatric adult-onset of urea cycle disorders: A case-series.Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.Simple and inexpensive quantification of ammonia in whole blood.Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemiaImproving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders ConsortiumClinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective studyNovel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells.Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene-Expanding the Clinical Phenotype.The pooling of manpower and resources through the establishment of European reference networks and rare disease patient registries is a necessary area of collaboration for rare renal disorders.Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature.Arginase-1 deficiency.Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years.N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.An update on the use of benzoate, phenylacetate and phenylbutyrate ammonia scavengers for interrogating and modifying liver nitrogen metabolism and its implications in urea cycle disorders and liver disease.Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives.Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.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.Urea cycle disorders: a life-threatening yet treatable cause of metabolic encephalopathy in adults.Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.Liver involvement in urea cycle disorders: a review of the literature.Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer RegionArgininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transferLate onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case reportPharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferaseCarglumic Acid Treatment of a Patient with Recurrent Valproic Acid-induced Hyperammonemia: A Rare Case Report
P2860
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P2860
description
2013 nî lūn-bûn
@nan
2013 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
The incidence of urea cycle disorders
@ast
The incidence of urea cycle disorders
@en
type
label
The incidence of urea cycle disorders
@ast
The incidence of urea cycle disorders
@en
prefLabel
The incidence of urea cycle disorders
@ast
The incidence of urea cycle disorders
@en
P2093
P1476
The incidence of urea cycle disorders
@en
P2093
Brian Kirmse
Cynthia Le Mons
Debra Freedenberg
European Registry and Network ...... //www.e-imd.org/en/index.phtml
Hye-Seung Lee
Johannes Haberle
Members of the Urea Cycle Diso ...... easesnetwork.epi.usf.edu/ucdc/
Stefan Koelker
P2860
P304
P356
10.1016/J.YMGME.2013.07.008
P577
2013-07-18T00:00:00Z