Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
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A systematic review of approaches for engaging patients for research on rare diseasesPatterns of brain injury in inborn errors of metabolismGenotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation UpdateOn the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type MetabolicSignificant hepatic involvement in patients with ornithine transcarbamylase deficiency.Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.A longitudinal study of urea cycle disorders.Research challenges in central nervous system manifestations of inborn errors of metabolismStandardization of Questions in Rare Disease Registries: The PRISM Library ProjectThe incidence of urea cycle disordersCoverage of rare disease names in standard terminologies and implications for patients, providers, and research.Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differPreclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome.Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency.Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavior Rating Inventory of Executive Function (BRIEF) for Identification of Individuals at RiskNetworking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.Urea cycle defects and hyperammonemia: effects on functional imaging.Improving 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.Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene-Expanding the Clinical Phenotype.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.AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review.Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
P2860
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P2860
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Establishing a consortium for ...... rea Cycle Disorders Consortium
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Establishing a consortium for ...... rea Cycle Disorders Consortium
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type
label
Establishing a consortium for ...... rea Cycle Disorders Consortium
@ast
Establishing a consortium for ...... rea Cycle Disorders Consortium
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prefLabel
Establishing a consortium for ...... rea Cycle Disorders Consortium
@ast
Establishing a consortium for ...... rea Cycle Disorders Consortium
@en
P2093
P2860
P50
P1476
Establishing a consortium for ...... rea Cycle Disorders Consortium
@en
P2093
Annette Feigenbaum
Brendan Lanpher
Brendan Lee
Cary O Harding
Cynthia Lemons
Douglas S Kerr
George A Diaz
Hye-Seung Lee
Jeffrey Krischer
Jennifer Seminara
P2860
P304
P356
10.1016/J.YMGME.2010.01.014
P478
100 Suppl 1
P577
2010-02-10T00:00:00Z