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799 results
  1. What is it like to research a rare disease? | NIH MedlinePlus Magazine 
    https://magazine.medlineplus.gov/...-like-to-research-a-rare-disease
    ... is it like to research a rare disease? Urea cycle disorder principal investigator shares her experience Andrea L. Gropman, ... the disorder for 14 years. What is a urea cycle disorder? A urea cycle disorder results from an inability ...
  2. Zoey’s story: One family’s experience with a rare disease | NIH MedlinePlus Magazine 
    https://magazine.medlineplus.gov/...s-experience-with-a-rare-disease
    ... One family’s experience with a rare disease Undiagnosed urea cycle disorder takes life of college student In 2015, college ... body, which led to a fatal coma. Discovering urea cycle disorder After Zoey passed away, her parents made the ...
  3. Lysinuric Protein Intolerance - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1361
    ... For information on selection criteria, click here . National Urea Cycle Disorders Foundation 75 South Grand Avenue Pasadena CA 91105 ... IMD) www.e-imd.org/en/index.phtml Urea Cycle Disorder International Patient Registry Phone: 626-578-0833 Fax: ...
  4. Ammonia Levels: MedlinePlus Medical Test 
    https://medlineplus.gov/lab-tests/ammonia-levels
    ... causes include kidney failure and genetic disorders called urea cycle disorders. The medical term for high ammonia levels is ... illness may increase the risk of Reye syndrome. Urea cycle disorders (UCDs) . This is a group of rare genetic ...
  5. Ornithine translocase deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../ornithine-translocase-deficiency
    ... belongs to a class of genetic diseases called urea cycle disorders. Learn more about the gene associated with Ornithine ... patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. Mol Genet Metab. 2003 Aug;79(4):257- ...
  6. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Complex Deficiency Refsum Disease Refsum Disease, Infantile Tyrosinemias Urea Cycle Disorders, Inborn Argininosuccinic Aciduria Carbamoyl-Phosphate Synthase I Deficiency ...
  7. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 875 Tyrosinemias C10.228.140.163.100.937 Urea Cycle Disorders, Inborn C10.228.140.163.100.937.124 ... 100.880 Tyrosinemias C16.320.565.100.940 Urea Cycle Disorders, Inborn C16.320.565.100.940.124 Argininosuccinic ...
  8. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... 875...........................................Tyrosinemias C10.228.140.163.100.937...........................................Urea Cycle Disorders, Inborn C10.228.140.163.100.937.124........................................... ...
  9. Argininosuccinic aciduria: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria
    ... belongs to a class of genetic diseases called urea cycle disorders because they are caused by problems with a ... Gropman AL, Lanpher BC, Chapman KA, Summar ML. Urea Cycle Disorders Overview. 2003 Apr 29 [updated 2017 Jun 22]. ...
  10. SLC25A15 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/slc25a15
    ... patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. Mol Genet Metab. 2003 Aug;79(4):257- ... PubMed Waisbren SE, Gropman AL; Members of the Urea Cycle Disorders Consortium (UCDC); Batshaw ML. Improving long term outcomes ...
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