Urea cycle disorders

Clinics in Liver Disease

Volumn 4, Issue 4, 2000, Pages 815-830

  Burton, Barbara K ^b  

^a CHILDREN'S MEMORIAL HOSPITAL   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; DIET THERAPY; DISEASE ASSOCIATION; ENZYME DEFICIENCY; HUMAN; HYPERAMMONEMIA; INBORN ERROR OF METABOLISM; LIVER TRANSPLANTATION; PATHOGENESIS; PROTEIN RESTRICTION; REVIEW; UREA CYCLE;

EID: 0033768523     PISSN: 10893261     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1089-3261(05)70143-4     Document Type: Article

References (38)

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2. Analysis of naturally occuring and site-directed mutations in the argininosuccinate lyase gene
3. Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency
4. The human argininosuccinate synthetase locus and citrullinemia
5. Urea cycle enzymes
6. Phenylacetyglutamine may replace urea as a vehicle for waste nitrogen excretion
7. Chromosome assignement of a human gene for argininosuccinate synthetase expression in Chinese hamster-human somatic cell hybrids
8. Hyperargininemia
9. Late-onset ornithine transcarbamylase deficiency in male patients
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11. Argininosuccinic aciduria: Prenatal studies in a family at risk
12. Hepatic involvement in argininosuccinase deficiency
13. Allopurinol-induced orotodinuria: A test for mutations at the ornithine carbamoyltransferase locus in women
14. Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation
15. Nature and frequency of mutations in the argininosuccinate synthetase gene that causes classical citrullinemia
16. Heritable urea cycle enzyme deficiency-liver disease in 16 patients
17. Long-term treatment of girls with ornithine transcarbamylase deficiency
18. Prospective treatment of urea cycle disorders
19. Interallelic complementation in an inborn error of metabolism: Genetic heterogeneity in argininosuccinate lyase deficiency
20. Nitrogen metabolism and ornithine cycle function
21. Regulation of enzymes of urea and arginine synthesis
22. Neurologic outcome in children with inborn errors of urea synthesis
23. Argininosuccinic aciduria: Assignment of the arginino-succinate lyase gene to the pter-q22 region of chromosome 7 by bioautography
24. Death after transplantation of a liver from a donor with unrecognized ornithine transcarbamylase deficiency
25. Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies
26. Natural history of symptomatic partial ornithine transcarbamylase deficiency
27. Arginase deficiency presenting as cerebral palsy
28. N-acetylglutamate synthetase deficiency: Diagnosis, management and follow-up of a rare disorder of ammonia detoxification
29. Hereditary urea-cycle disorders
30. After gene therapy death: Investigators ponder what went wrong
31. The gene for human liver arginase (ARGI) is assigned to chromosome band 6q23
32. Hepatocyte transplantation for the treatment of human disease
33. Physical and linkage mapping of human carbamylphosphate synthetase I and reassignment from 2p to 2q35
34. Persistent acitrullinemia after liver transplantation for carbamoyl-phosphate synthetase deficiency
35. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency
36. Molecular basis of phenotypic variation in patients with argininemia
37. Liver transplantation for the treatment of urea cycle disorders
38. Severe liver fibrosis in argininosuccinic aciduria