Cross-sectional multicenter study of patients with urea cycle disorders in the United States
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Suggested guidelines for the diagnosis and management of urea cycle disordersArgininosuccinate lyase deficiencyArgininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screeningMolecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerationsFrequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)Can psychiatric childhood disorders be due to inborn errors of metabolism?Ammonia toxicity to the brain.Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase DeficiencyExpanding the phenotype in argininosuccinic aciduria: need for new therapies.Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate.Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate.Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland.Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumN-acetylglutamate synthase: structure, function and defects.Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis.Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamatePhase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control.Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.Phenylbutyrate therapy for maple syrup urine disease.Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients.L-citrulline attenuates arrested alveolar growth and pulmonary hypertension in oxygen-induced lung injury in newborn rats.Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.Coma query cause.Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differLong-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patientsPreclinical 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.Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders GuidelinesN-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.Rescue Treatment with L-Citrulline Inhibits Hypoxia-Induced Pulmonary Hypertension in Newborn Pigs.Vaccines are not associated with metabolic events in children with urea cycle disorders.Anesthetic experience of an adult male with citrullinemia type II: a case report.
P2860
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P2860
Cross-sectional multicenter study of patients with urea cycle disorders in the United States
description
article científic
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article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 17 June 2008
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vedecký článok
@sk
vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Cross-sectional multicenter st ...... disorders in the United States
@en
Cross-sectional multicenter st ...... isorders in the United States.
@nl
type
label
Cross-sectional multicenter st ...... disorders in the United States
@en
Cross-sectional multicenter st ...... isorders in the United States.
@nl
prefLabel
Cross-sectional multicenter st ...... disorders in the United States
@en
Cross-sectional multicenter st ...... isorders in the United States.
@nl
P2093
P2860
P921
P1476
Cross-sectional multicenter st ...... disorders in the United States
@en
P2093
Brendan Lee
Douglas S Kerr
George A Diaz
Hye-Seung Lee
Jeffrey P Krischer
Marc Yudkoff
Margaretta R Seashore
Mark L Batshaw
Mendel Tuchman
Robert J McCarter
P2860
P304
P356
10.1016/J.YMGME.2008.05.004
P577
2008-06-17T00:00:00Z