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100 results
  1. Urea Cycle Disorders Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1217
    ... part of health care providers is necessary. Differential Diagnosis of Urea Cycle Disorders A number of other disorders that perturb the ... extent the plasma ammonia concentration. The NIH-funded Urea Cycle Disorders Consortium provides expert diagnosis and treatment of urea cycle disorders as well ...
  2. Ornithine Transcarbamylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154378
    ... Hill; 2001:1909-63. Brusilow SW, Maestri NE. Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv Pediatr. 1996;43:127- ... J, Seltzer R, Gropman AL, editors. Seizures in urea cycle disorders (UCDs): An under-recognized symptom in patients outside of the acute metabolic phase. ...
  3. Argininosuccinate Lyase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK51784
    ... is characteristic and differentiates ASL deficiency from other urea cycle disorders. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  4. Citrullinemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1458
    ... V, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32. [ PubMed ] ... M, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision. J Inherit Metab Dis. 2019;42: ...
  5. Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK97260
    ... M, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis. 2019;42: ...
  6. Arginase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1159
    ... M, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision. J Inherit Metab Dis. 2019;42:1192-1230. [ PubMed : 30982989 ] Hewson S, Clarke JT, Cederbaum S (2003) Prenatal diagnosis for arginase deficiency: a case study. J Inherit ...
  7. Ornithine translocase deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../ornithine-translocase-deficiency
    ... V, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012 May 29;7: ... M, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis. 2019 Nov; ...
  8. What is it like to research a rare disease? | NIH MedlinePlus Magazine 
    https://magazine.medlineplus.gov/...-like-to-research-a-rare-disease
    ... many individuals remain undiagnosed or have very mild symptoms, especially adults. What kind of research does the Urea Cycle Rare Diseases Consortium work on? "Patients actually provide a lot ...
  9. Classic Isovaleric Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK601614
    ... M, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision. J Inherit Metab Dis. 2019;42: ...
  10. Carbonic Anhydrase VA Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK284774
    ... neonatologist and metabolic pediatrician who specializes in the diagnosis and treatment of urea cycle defects and related disorders with hyperammonemia. Acknowledgments We gratefully acknowledge Casper Shyr, ...
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