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109 results
  1. Urea Cycle Disorders Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1217
    ... Search term GeneReviews Advanced Search Help < Prev Next > Urea Cycle Disorders Overview Nicholas Ah Mew , MD, Kara L Simpson , ... of the Urea Cycle and Clinical Characteristics of Urea Cycle Disorders Definition The urea cycle: Is the sole source ...
  2. 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 ...
  3. 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 ...
  4. Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK97260
    ... 2008 , Martinelli et al 2015 ] A hyperammonemia or urea cycle disorder multigene panel that includes SLC25A15 and other genes ... information on selection criteria, click here . Connecting Families - Urea Cycle Disorders (UCD) Foundation Phone: 918-490-3055 ucdfamily.org ...
  5. Ornithine Transcarbamylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154378
    ... Parents LEarning) United Kingdom Ornithine transcarbamylase deficiency National Urea Cycle Disorders Foundation Phone: 626-578-0833 nucdf.org Connecting ...
  6. Citrullinemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1458
    ... exon and whole-gene deletions or duplications. A urea cycle disorders / hyperammonemia multigene panel that includes ASS1 and other ... on selection criteria, click here . MedlinePlus Citrullinemia National Urea Cycle Disorders Foundation Phone: 626-578-0833 nucdf.org British ...
  7. Argininosuccinate Lyase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK51784
    ... United Kingdom Argininosuccinic aciduria MedlinePlus Argininosuccinic aciduria National Urea Cycle Disorders Foundation Phone: 626-578-0833 nucdf.org Metabolic ...
  8. 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 Phone: 626-578-0833 nucdf.org Metabolic ... United Kingdom Phone: 0845 241 2173 metabolicsupportuk.org Urea Cycle Disorders Consortium Phone: 202-306-6489 Email: jseminar@childrensnational. ...
  9. Arginase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1159
    ... Home Portal Arginase Deficiency MedlinePlus Arginase deficiency National Urea Cycle Disorders Foundation Phone: 626-578-0833 nucdf.org Metabolic ... Resources & Services ... Disorders Consortium Phone: 202-306-6489 Email: jseminar@childrensnational. ...
  10. 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 ...
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