Alternative pathway therapy for urea cycle disorders: twenty years later.
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Summary
It must be acknowledged that alternative pathway therapy has limited effectiveness in preventing hyperammonemia and must be combined with effective dietary management, and in children with neonatal-onset disease or in those with very poor metabolic control, liver transplantation should be considered.
- Type
- review
- Published
- 2001-01-01
- Cited by
- 228
- References
- 50
- OpenAlex
- https://openalex.org/W1966994747
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:10403697
Keywords
Medicine, Hyperammonemia, Urea cycle, Phenylbutyrate, Intensive care medicine
References
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- Phenylacetylglutamine and hippuric acid in uremic and healthy subjects.
- Severe liver fibrosis in argininosuccinic aciduria.
- The American heritage dictionary
- The urea cycle
- The Metabolic and Molecular Bases of Inherited Disease
- TOXICITY OF PHENYLACETIC ACID
- Alternative pathway therapy for urea cycle disorders
- A phase I and pharmacokinetic study of intravenous phenylacetate in patients with cancer.
- A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.
- Phase I study of phenylacetate administered twice daily to patients with cancer
- Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency.
- Long-term treatment of girls with ornithine transcarbamylase deficiency.
- Heritable urea cycle enzyme deficiency-liver disease in 16 patients.
- Sodium benzoate inhibits fatty acid oxidation in rat liver: effect on ammonia levels.
- Cognitive Development in Children with Inborn Errors of Urea Synthesis
- Safety helmet law in Italy.
- Hydroxyurea and sodium phenylbutyrate therapy in thalassemia intermedia
- Waste Nitrogen Excretion Via Amino Acid Acylation: Benzoate and Phenylacetate in Lysinuric Protein Intolerance
- Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency.
Cited by
- CHARACTERIZATION OF THE N-ACETYLGLUTAMATE SYNTHASE KNOCKOUT MOUSE, A NOVEL MODEL OF HYPERAMMONEMIA
- Portal hypertension and its complications.
- Phase 2 study of sodium phenylbutyrate in ALS
- Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria.
- In silico systems analysis of biopathways
- Varianten von Harnstoffzyklusstörungen
- Ornithine Transcarbamylase
- Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature
- Feeding difficulties in children with inherited metabolic disorders: a pilot study.
- Management of urea cycle defects in a developing country
- Liver transplantation for argininosuccinic aciduria: Clinical, biochemical, and metabolic outcome
- Diagnosis and treatment of urea cycle disorder in Japan
- Noncirrhotic hyperammonaemic encephalopathy
- Sodium benzoate for treatment of hepatic encephalopathy.
- Challenges of experimental gene therapy for urea cycle disorders
- Dietary management of urea cycle disorders: UK practice.
- Arginase-1 deficiency
- Preclinical Evaluation of a Clinical Candidate AAV8 Vector for Ornithine Transcarbamylase (OTC) Deficiency Reveals Functional Enzyme from Each Persisting Vector Genome
- Threshold for toxicity from hyperammonemia in critically ill children.
- Recent advances in the treatment of hyperammonemia.
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